NLRP3 inflammasome mechanism and therapeutic targets in diabetic cardiomyopathy.

Diabetic cardiomyopathy (DCM) is a serious complication of diabetes caused by oxidative stress, inflammation, insulin resistance, myocardial fibrosis, and lipotoxicity; its nature is insidious, complex and difficult to treat. NLRP3 inflammasome triggers the maturation and release of pro-inflammatory cytokines, participates in pathophysiological processes such as insulin resistance and myocardial fibrosis, in addition to being closely related to the development and progression of diabetic cardiomyopathy. The development of inhibitors targeting specific aspects of inflammation suggests that NLRP3 inflammasome can be used to treat diabetic cardiomyopathy. This paper aims to summarize NLRP3 inflammasome mechanism and therapeutic targets in diabetic cardiomyopathy, and to provide new suggestions for the treatment of this disease.

La cardiomiopatía diabética es una complicación grave de la diabetes causada por estrés oxidativo, inflamación, resistencia a la insulina, fibrosis miocárdica y lipotoxicidad. Se trata de un padecimiento insidioso, complejo y difícil de tratar. El inflamasoma NLRP3 desencadena la maduración y liberación de citoquinas proinflamatorias, participa en procesos fisiopatológicos como la resistencia a la insulina y la fibrosis miocárdica, además de estar estrechamente relacionado con la aparición y progresión de la cardiomiopatía diabética. El desarrollo de inhibidores dirigidos a aspectos específicos de la inflamación sugiere que el inflamasoma NLRP3 puede utilizarse para tratar la cardiomiopatía diabética. Este artículo pretende resumir el mecanismo y las dianas terapéuticas del inflamasoma NLRP3 en la cardiomiopatía diabética, así como aportar nuevas sugerencias para el tratamiento de esta enfermedad.

Heart failure in sub-Saharan Africa: review of the aetiology of heart failure and the role of point-of-care biomarker diagnostics.

Within Africa, the burden of heart failure is significant. This arises from the increase in cardiovascular disease and associated risk factors such as hypertension and diabetes, as well as causes of heart failure which are particular to sub-Saharan Africa, such as endomyocardial fibrosis. The lack of access to echocardiography and other imaging modalities, from a cost and technical perspective, combined with the predominantly rural nature of many countries with poor transport links, means that the vast majority of people never obtain an appropriate diagnosis. Similarly, research has been limited on the causes and treatment of heart failure in Africa and in particular endemic causes such as EMF and rheumatic heart disease. This review outlines the burden of heart failure in Africa and highlights the opportunity to expand diagnosis through the use of biomarkers, in particular natriuretic peptides. This builds on the success of point-of-care testing in human immunodeficiency virus and tuberculosis which have been extensively deployed in community settings in Africa.

Outcomes of ventricular tachycardia ablation in patients with ischemic and non-ischemic cardiomyopathy: A propensity-score matched analysis.

INTRODUCTION AND OBJECTIVES: Catheter ablation (CA) is effective in the treatment of ventricular tachycardia (VT). Although some observational data suggest patients with non-ischemic cardiomyopathy (NICM) have less favorable outcomes when compared to those with an ischemic etiology (ICM), direct comparisons are rarely reported. We aimed to compare the outcomes of VT ablation in a propensity-score matched population of ICM or NICM patients. METHODS: Single-center retrospective study of consecutive patients undergoing VT ablation from 2012 to 2023. A propensity score (PS) was used to match ICM and NICM patients in a 1:1 fashion according to age, sex, left ventricular ejection fraction (LVEF), NYHA class, electrical storm (ES) at presentation, and previous endocardial ablation. The outcomes of interest were VT-free survival and all-cause mortality. RESULTS: The PS yielded two groups of 71 patients each (mean age 63±10 years, 92% male, mean LVEF 35±10%, 36% with ES at presentation, and 23% with previous ablation), well matched for baseline characteristics. During a median follow-up of 2.3 (interquartile range IQR 1.3-3.8) years, patients with NICM had a significantly lower VT-free survival (53.5% vs. 69.0%, log-rank p=0.037), although there were no differences regarding all-cause mortality (22.5% vs. 16.9%, log-rank p=0.245). Multivariate analysis identified NICM (HR 2.34 [95% CI 1.32-4.14], p=0.004), NYHA class III/IV (HR 2.11 [95% CI 1.11-4.04], p=0.024), and chronic kidney disease (HR 2.23 [95% CI 1.25-3.96], p=0.006), as independent predictors of VT recurrence. CONCLUSION: Non-ischemic cardiomyopathy patients were at increased risk of VT recurrence after ablation, although long-term mortality did not differ.

Cirrhotic cardiomyopathy: Pathogenesis, clinical features, diagnosis, treatment and prognosis.

Cardiac dysfunction among cirrhotic patients has long been recognized in the medical community. While it was originally believed to be a direct result of alcohol toxicity, in the last 30 years cirrhotic cardiomyopathy (CCM) has been described as a syndrome characterized by chronic cardiac dysfunction in cirrhotic patients in the absence of known cardiac disease, regardless of the etiology of cirrhosis. CCM occurs in about 60% of patients with cirrhosis and plays a critical role in disease progression and treatment outcomes. Due to its predominantly asymptomatic course, diagnosing CCM is challenging and requires a high index of suspicion and a multiparametric approach. Patients with CCM usually present with the following triad: impaired myocardial contractile response to exercise, inadequate ventricular relaxation, and electrophysiological abnormalities (notably prolonged QT interval). In recent years, research in this area has grown expeditiously and a new set of diagnostic criteria has been developed by the Cirrhotic Cardiomyopathy Consortium, to properly identify patients with CCM. Nevertheless, CCM is still largely unknown among clinicians, and a major part of its pathophysiology and treatment is yet to be understood. In the present work, we aim to compile and summarize the available data on the pathogenesis, clinical features, diagnosis, treatment, and prognosis of CCM.

[Septal alcohol ablation in patients with hypertrophic cardiomyopathy]. / Ablación septal con alcohol para tratar miocardiopatía hipertrófica.

OBJECTIVE: to know the clinical and hemodynamic course in septal obstructive hypertrophic cardiomyopathy (SOHC) after alcohol ablation. METHODS: this was an observational, longitudinal study, including 21 patients with SOHC with functional class of the New York Heart Association (CF-NYHA) refractory to treatment and/or = 30 mm Hg gradient at rest or = 60 mm Hg provoked, or have systolic anterior motion or mitral incompetence (MI) > grade II by echocardiography. RESULTS: average age was 50 ± 16 years, males 38.1 %, females 61.9 %; symptoms: angina 42.9 %, dyspnea 85.7 %, syncope 23.8 %. Pre-ablation CF-NYHA was III and IV in 61.9 %; after a year follow-up all of them were class I-II. Pre-ablation, after and one year later, interventricle septum measures were 22.7 ± 4.9 and 20.7 ± 3.1 mm; left ventricular ejection fraction was 65.5 ± 7 %, 62.2 % ± 6.5 % and 68.7 ± 6.2 %; the output gradient of the left ventricle were 106.9 ± 29.9, 44.6 ± 24.3 and 22.0 ± 5.7 mm Hg. Pre-ablation MI grade-III and IV were 33.3 % and 47.6 %; after a year it was grade-0, 52.4 %, grade-I 28.6 %, grade-II, 19 %. There were no hospital mortality. CONCLUSIONS: the alcohol septal ablation in SOHC patients had a high success treatment with a low complication rate.

Objetivo: conocer características demográficas, clínicas y hemodinámicas de los pacientes con ablación con alcohol para tratar la miocardiopatía hipertrófica septal obstructiva (MHSO). Métodos: estudio observacional, longitudinal, descriptivo de 21 pacientes con MHSO resistente a tratamiento o con gradiente = 30 mm Hg en reposo o = 60 mm Hg provocado y con movimiento sistólico anterior o insuficiencia mitral > grado II. Resultados: edad de 50 ± 16 años; hombres 38.1 % y mujeres 61.9 %. Los síntomas fueron angor 42.9 %, disnea 85.7 % y síncope 23.8 %. La clase funcional NYHA preablación fue grados III y IV en 61.9 %; al año todos tenían grados I y II. Preablación y al año, el espesor del septo interventricular fue de 22.7 ± 4.9 y 20.7 ± 3.1 mm. Preablación, después y al año, la fracción de eyección fue de 65.5 ± 7, 62.2 ± 6.5 y 68.7 ± 6.2 %. Preablación, después y al año, el gradiente del tracto de salida del ventrículo izquierdo fue de 106.9 ± 29.9, 44.6 ± 24.3 y 22.0 ± 5.7 mm Hg. Preablación, la insuficiencia mitral fue grados III y IV en 33.3 y 47.6 % y al año fue grados 0 en 52.4 %, I en 28.6 % y II en 19 %. No hubo defunciones intrahospitalarias. Conclusiones: la ablación septal con alcohol en pacientes con MHSO fue exitosa.

ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.

INTRODUCTION AND OBJECTIVES: Missense mutations in the filamin C (FLNC) gene have been reported as cause of inherited cardiomyopathy. Knowledge of the pathogenicity and genotype-phenotype correlation remains scarce. Our aim was to describe a distinctive cardiac phenotype related to rare missense FLNC variants in the ROD2 domain. METHODS: We recruited 21 unrelated families genetically evaluated because of hypertrophic cardiomyopathy (HCM)/restrictive cardiomyopathy (RCM) phenotype carrying rare missense variants in the ROD2 domain of FLNC (FLNC-mRod2). Carriers underwent advanced cardiac imaging and genetic cascade screening. Myocardial tissue from 3 explanted hearts of a missense FLNC carrier was histologically analyzed and compared with an FLNC-truncating variant heart sample and a healthy control. Plasmids independently containing 3 FLNC missense variants were transfected and analyzed using confocal microscopy. RESULTS: Eleven families (52%) with 20 assessed individuals (37 [23.7-52.7]) years showed 15 cases with a cardiac phenotype consisting of an overlap of HCM-RCM and left ventricular hypertrabeculation (saw-tooth appearance). During a median follow-up of 6.49 years, they presented with advanced heart failure: 16 (80%) diastolic dysfunction, 3 heart transplants, 3 heart failure deaths) and absence of cardiac conduction disturbances or skeletal myopathy. A total of 6 families had moderate genotype-phenotype segregation, and the remaining were de novo variants. Differential extracellular matrix remodeling and FLNC distribution among cardiomyocytes were confirmed on histology. HT1080 and H9c2 cells did not reveal cytoplasmic aggregation of mutant FLNC. CONCLUSIONS: FLNC-mRod2 variants show a high prevalence of an overlapped phenotype comprising RCM, HCM and deep hypertrabeculation with saw-tooth appearance and distinctive cardiac histopathological remodeling.

[Electrocardiographic interval as a predictor of life-threatening arrhythmias in dilated cardiomyopathy patients]. / Intervalo electrocardiográfico como predictor de arritmias graves en pacientes con miocardiopatía dilatada.

Background: The Tpe interval (Tp-e) in the surface electrocardiogram represents ventricular repolarization, a key phase in the pathogenesis of severe ventricular arrhythmias. However, there are few studies evaluating changes in this electrocardiographic interval as a risk factor for serious arrhythmias in patients with dilated cardiomyopathy. Objective: To determine whether the Tp-e interval prolongation predicts the presence of life-threatening arrhythmias in patients with dilated cardiomyopathy (DCM) with implantable cardioverter-defibrillator (ICD). Material and methods: Analytical, cross-sectional study in patients with DCM with ICDs. The Tp-e interval was measured in the V2 electrocardiographic lead and correlated with the incidence of life-threatening arrhythmias identified by the ICD. Results: 53 patients were recruited, 10 (18.8%) presented life-threatening arrhythmias. Prolongation of Tp-e interval was related to an increase in the incidence of ventricular tachycardia/fibrillation tachycardia (VT/FT) with a mean of 93 ± 20.5 ms (p = 0.003), using ROC curves to determine the thereshold of 90 ms for increased risk of VT/VF with sensitivity of 70% and specificity of 84%, with an area under the curve of 0.798. Conclusion: The prolongation of the ITp-e interval greater than 90 ms in a population with dilated cardiomyopathy predicts the presence of arrhythmic episodes, such as VT and/or VT/FT.

Introducción: el intervalo Tpe (ITp-e) en el electrocardiograma de superficie representa la repolarización ventricular, fase clave en la patogénesis de arritmias ventriculares graves. Sin embargo, existen pocos estudios que evalúen la alteración de este intervalo electrocardiográfico como factor de riesgo de arritmias graves en pacientes con miocardiopatía dilatada. Objetivo: determinar si la prolongación del ITp-e predice la presencia de arritmias potencialmente mortales en pacientes con miocardiopatía dilatada (MCD) portadores de desfibrilador automático implantable (DAI). Material y métodos: estudio, transversal analítico en pacientes con MCD portadores de DAI. Se midió el ITp-e en la derivación electrocardiográfica V2 y se correlacionó con la incidencia de arritmias potencialmente letales identificadas por el DAI. Resultados: se incluyeron 53 pacientes, 10 (18.8%) presentaron arritmias potencialmente mortales. La prolongación del ITp-e se relacionó con aumento de incidencia de taquicardia ventricular/fibrilación ventricular (TV/FV) con media de 93 ± 20.5 ms (p = 0.003), por lo que se determinó mediante curvas ROC el punto de corte de 90 ms para el aumento de riesgo de TV/FV con sensibilidad de 70% y especificidad de 84%, con área bajo la curva de 0.798. Conclusión: la prolongación del intervalo ITp-e > 90 ms en población con miocardiopatía dilatada predice la presencia de episodios arrítmicos como TV o FV.

Heart transplant anesthetic approach in a patient with Emery Dreyfuss muscular dystrophy: A case report.

Emery-Dreifuss muscular dystrophy is associated with cardiac abnormalities and rarely heart transplantation may be the treatment of choice. In this case, a male patient with Emery- Dreifuss muscular dystrophy developed NYHA class IV heart failure at 33 years of age and was submitted to heart transplantation. Anesthesia was adapted to prevent the development of malignant hyperthermia and rhabdomyolysis. The surgery was a success and the patient's progress was extremely positive with symptomatic improvement. In these patients, is critical to adjust not only his positioning but also the therapy administered in order to reduce iatrogeny and promote a faster recovery.

Coumel tachycardia in children.

BACKGROUND: Coumel tachycardia is an infrequent form of supraventricular tachycardia (SVT) that usually occurs in infants and children. It is a tachycardia mediated by an accessory pathway with retrograde slow conduction that explains the classic ECG pattern with long RP' interval and negative P waves in leads II, III, and aVF. In this study, we describe the clinical course and management of Coumel tachycardia in children. CASE REPORT: We conducted a retrospective review of five consecutive pediatric patients, mean age 11 ± 3 years (range 6 to 14). The first episode of SVT was at a mean age of 10.4 ± 4.8 years (range 2 to 14) with a mean evolution of 7.4 ± 9.4 months (range 1 to 24). Pharmacological therapy was unsuccessful despite the combination of antiarrhythmic drugs. The tachycardia was incessant with a density > 85% by 24-hour Holter monitoring; one patient developed tachycardia-induced cardiomyopathy. All children underwent successful radiofrequency catheter ablation, mean 5 ± 3 applications (range 1 to 8) with a single session and with no complications. After a mean follow-up of 24 ± 16 months, all patients were asymptomatic and recurrence-free without antiarrhythmic treatment. CONCLUSIONS: Coumel tachycardia is clinically persistent and usually refractory to antiarrhythmic treatment with substantial risk of tachycardia-mediated cardiomyopathy. Catheter ablation is effective and safe in children; thus, it should be indicated promptly and based on individual selection.

INTRODUCCIÓN: La taquicardia de Coumel es una forma poco frecuente de taquicardia supraventricular que suele presentarse en lactantes. Es una taquicardia mediada por una vía accesoria de conducción lenta retrógrada que explica el patrón ECG clásico con intervalo RP' largo y ondas P negativas en las derivaciones II, III y aVF. En este trabajo se describe el curso clínico y el manejo de la taquicardia de Coumel en niños. CASO CLÍNICO: Se llevó a cabo una revisión retrospectiva de cinco pacientes pediátricos consecutivos, con una media de edad de 11 ± 3 años (intervalos 6 a 14). El primer episodio de taquicardia 10.4 ± 4.8 años con evolución de 7.4 ± 9.4 meses. El tratamiento farmacológico fue ineficaz a pesar de la combinación de antiarrítmicos. La taquicardia era incesante con una densidad > 85% por Holter-24h; un paciente desarrolló miocardiopatía inducida por taquicardia. Todos los niños fueron sometidos a ablación con catéter y radiofrecuencia con éxito, y un promedio de 5 ± 3 aplicaciones en una sola sesión y sin complicaciones. Después de un seguimiento de 24 ± 16 meses, todos los pacientes fueron asintomáticos y libres de recurrencia sin tratamiento antiarrítmico. CONCLUSIONES: La taquicardia de Coumel es clínicamente persistente y generalmente refractaria al tratamiento antiarrítmico con un riesgo sustancial de miocardiopatía mediada por taquicardia. La ablación con catéter es eficaz y segura en niños, por lo que debe indicarse de forma temprana y en lactantes de una selección individual.

[Takotsubo cardiomyopathy associated with abnormal birth of the coronary arteries]. / Miocardiopatía de Takotsubo asociada al nacimiento anómalo de las arterias coronarias.

Background: Takotsubo cardiomyopathy (TM) is a form of non-ischemic cardiomyopathy. It is characterized by transient regional systolic dysfunction of the left ventricle that mimics acute myocardial infarction. The main objective of this article is to report the case of a patient with TM associated with abnormal birth of the left coronary trunk. Clinical case: A 76-year-old woman with typical angina at rest, with an electrocardiogram that showed dynamic changes in the T wave and elevation of biomarkers. Coronary angiography showed epicardial coronary arteries without significant lesions and abnormal birth of the left coronary trunk from the proximal segment of the right coronary artery. The patient progressed favorably, and the transthoracic echocardiogram showed no mobility disorders 3 months after the event. Conclusions: TM and abnormal birth of the coronary arteries are rare diseases whose simultaneous presentation is extraordinary. The diagnosis of both clinical entities is made by coronary angiography and echocardiogram, and their treatment is similar to that of patients with acute coronary syndrome. Abnormal birth of the left coronary trunk with retroaortic switch reaching the contralateral site has a good clinical prognosis and echocardiographic follow-up should be performed 4 weeks after the onset of the condition.

Introducción: la miocardiopatía de Takotsubo (MT) es una forma de miocardiopatía no isquémica. Se caracteriza por la disfunción sistólica regional transitoria del ventrículo izquierdo que imita al infarto agudo de miocardio. El objetivo principal de este artículo es reportar el caso de una paciente con MT asociada al nacimiento anómalo del tronco coronario izquierdo. Caso clínico: paciente mujer de 76 años que presentó angina típica en reposo, con un electrocardiograma que evidenció cambios dinámicos en la onda T y elevación de biomarcadores. La coronariografía evidenció a las arterias coronarias epicárdicas sin lesiones significativas y el nacimiento anómalo del tronco coronario izquierdo proveniente del segmento proximal de la arteria coronaria derecha. La paciente evolucionó de manera favorable y el ecocardiograma transtorácico no mostró trastornos en la movilidad a los tres meses del evento. Conclusiones: la MT y el nacimiento anómalo de las arterias coronarias son enfermedades raras cuya presentación simultánea es extraordinaria. El diagnóstico de ambas entidades clínicas se realiza mediante la coronariografía y el ecocardiograma, y su tratamiento es similar al de los pacientes con síndrome coronario agudo. El nacimiento anómalo del tronco coronario izquierdo con cruce retroaórtico que alcanza el sitio contralateral tiene un buen pronóstico y se debe realizar seguimiento clínico y ecocardiográfico a las cuatro semanas del inicio del padecimiento.

Takotsubo Syndrome in a Rheumatoid Arthritis Patient Under Tofacitinib: A Case Report.

We describe a case of a 57-year-old white woman treated for rheumatoid arthritis (RA) with tofacitinib 10mg daily (started one year ago) and prednisolone 5mg daily. She presented to the emergency department with a tight squeezing chest pain and shortness of breath for 7h and the clinical evaluation revealed regional systolic dysfunction of the left ventricle, mimicking a myocardial infarction, in the absence of angiographic evidence of obstructive coronary artery disease or acute plaque rupture. All changes were transient and resolved completely within 4 days. The diagnosis of Takotsubo cardiomyopathy (TKM) was established. This is, as far as we know, the first report of a case of TKM in a RA patient taking tofacitinib. Although the association has not been previously described and the precise cause cannot be identified in this patient, the association with tofacitinib should be considered given the etiopathogenic rationale and the absence of any other identifiable cause.

Diagnostic value of combined detection of IL-1ß, IL-6, and TNF-α for sepsis-induced cardiomyopathy.

INTRODUCTION: This study aimed to explore the diagnostic value and the correlation of the combined detection of interleukin-1ß (IL-1ß), interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α) with sepsis-induced cardiomyopathy (SIC). PATIENTS AND METHODS: Admitted to our hospital from January 2017 to January 2019, 96 patients with SIC (a study group) and 90 patients with sepsis (a control group) were enrolled. The three cytokines were determined and the diagnostic value of their combined detection for SIC was analyzed. RESULTS: The cytokines were remarkably higher in the study group (p<.001). The combined detection of the three had a better diagnostic value for SIC (p<.001). The three cytokines were independent risk factors for the death of patients with SIC. CONCLUSION: IL-1ß, IL-6, and TNF-α in SIC patients rise markedly. The combined detection of the three has a better predictive value for patients with SIC and is closely related to the patients' prognoses, so it may be crucial in diagnosing and treating the disease.

Left ventricular noncompaction associated with a pathogenic mutation in the MYH7 gene: Known mutation, different phenotype.

Left ventricular noncompaction (LVNC) is a genetically heterogeneous cardiomyopathy, with familial and sporadic forms, but genetic testing only identifies a pathogenic mutation in a minority of cases. The main complications are heart failure, embolism and dysrhythmias. Herein we report a familial case of LVNC associated with a mutation in the MYH7 gene and review the literature regarding controversies in LVNC. A 50-year-old woman was referred to the cardiology clinic for palpitations. She underwent echocardiography and cardiac magnetic resonance imaging that revealed mild left ventricular systolic dysfunction and LVNC criteria. She had several episodes of non-sustained ventricular tachycardia and received an implantable cardioverter-defibrillator (ICD). Genetic testing revealed the c.1003G>C (p.Ala335Pro) mutation in the MYH7 gene. Familial screening showed clear genotype-phenotype cosegregation, which provided strong evidence for the pathogenic role of this mutation. To the best of our knowledge, this is the first report of LVNC associated with the p.Ala335Pro mutation in the MYH7 gene. This mutation has been described in hypertrophic cardiomyopathy, suggesting that the same pathogenic sarcomere mutation may be associated with different cardiomyopathies. This case also highlights the current difficulties regarding decisions on ICD implantation for primary prevention of sudden cardiac death in LVNC.

Takotsubo Syndrome in a Rheumatoid Arthritis Patient Under Tofacitinib: A Case Report.

We describe a case of a 57-year-old white woman treated for rheumatoid arthritis (RA) with tofacitinib 10mg daily (started one year ago) and prednisolone 5mg daily. She presented to the emergency department with a tight squeezing chest pain and shortness of breath for 7h and the clinical evaluation revealed regional systolic dysfunction of the left ventricle, mimicking a myocardial infarction, in the absence of angiographic evidence of obstructive coronary artery disease or acute plaque rupture. All changes were transient and resolved completely within 4 days. The diagnosis of Takotsubo cardiomyopathy (TKM) was established. This is, as far as we know, the first report of a case of TKM in a RA patient taking tofacitinib. Although the association has not been previously described and the precise cause cannot be identified in this patient, the association with tofacitinib should be considered given the etiopathogenic rationale and the absence of any other identifiable cause.

Endomyocardial fibrosis: a restrictive cardiomyopathy in developing countries.

OBJECTIVE: Endomyocardial fibrosis (EF) is an unusual restrictive cardiomyopathy. In Latin America there are few reports. Here, we made a description of patients diagnosed with EF in Colombia. METHOD: We conducted a search in the records of cardiac magnetic resonance imaging (MRI) performed in our institution between 2016-2019 looking for patients with a diagnosis of EF; sociodemographic, clinical and imaging characteristics were described. RESULTS: Nine patients were diagnosed with EF (66.7% female), with an average age of 69 years. Patients presented an average evolution of 2.6 years. The main reported symptom was dyspnea, followed by syncope, chest pain, and palpitations. None of them was initially suspected for EF. Regarding echocardiographic findings, predominant left ventricular involvement was identified, followed by bi-ventricular involvement. All the patients presented a restrictive filling pattern with severe left atrial dilation. In a retrospective analysis, Mocumbi criteria for diagnosis of EF were met in 100% of the patients, majority with moderate severity (77.8%). Cardiac MRI showed biventricular systolic function and volumes preserved. Focal subendocardial late gadolinium enhancement was observed on the apex and apical thrombus was confirmed in 66% of the patients. CONCLUSION: FE is an uncommon restrictive cardiomyopathy limited to tropical countries. Most of patients in our series presented isolated involvement of left ventricle, followed by bi-ventricular involvement, with ventricular function usually preserved.

OBJETIVO: La fibrosis endomiocárdica (FE) es una cardiomiopatía restrictiva infrecuente. En América Latina son escasos los reportes. En el presente trabajo se realiza una descripción de una serie de pacientes diagnosticados de FE en Colombia. MÉTODO: Realizamos una búsqueda en los registros de imágenes de resonancia magnética (RM) cardiaca realizadas en nuestra institución entre 2016 y 2019 en busca de pacientes con diagnóstico de FE. Se describieron sus características sociodemográficas, clínicas y de imagen. RESULTADOS: Nueve pacientes fueron diagnosticados de FE (el 66.7% mujeres), con una edad promedio de 69 años. Los pacientes presentaron un promedio de 2.6 años de evolución. El principal síntoma referido fue disnea, seguido de síncope, dolor torácico y palpitaciones. En ninguno de ellos se sospechó FE como diagnóstico inicial. En cuanto a los hallazgos ecocardiográficos, se identificó compromiso predominante del ventrículo izquierdo, seguido de compromiso biventricular. Todos los pacientes presentaron patrón de llenado restrictivo con dilatación auricular izquierda severa. En el análisis retrospectivo se cumplieron los criterios de Mocumbi para el diagnóstico de FE en el 100% de los pacientes con gravedad moderada (77.8%). Las imágenes de RM mostraron función sistólica biventricular y volúmenes preservados. Se observó depósito focal de gadolinio subendocárdico a nivel apical y se confirmó la presencia de trombo en el 66% de los casos. CONCLUSIÓN: La FE es una cardiomiopatía restrictiva infrecuente circunscrita a países tropicales. La mayoría de los pacientes en nuestra serie presentaron compromiso aislado del ventrículo izquierdo, seguido de compromiso biventricular, con función ventricular usualmente preservada.

Takotsubo (stress cardiomyopathy) syndrome and inappropriate antidiuretic hormone secretion.

El Síndrome de Takotsubo es una disfunción ventricular aguda reversible en ausencia de obstrucción coronaria. Una mujer de 85 años de edad con antecedentes de reemplazo valvular aórtico transcatéter, ingresó por dos semanas de dolor severo por una cadera desplazada por osteosíntesis fallida. Mientras se programaba para cirugía, se documentó hiponatremia severa secundaria a secreción inapropiada de hormona antidiurética. Súbitamente desarrolló edema agudo pulmonar. El ecocardiograma confirmó una válvula protésica funcional y aquinesia medial y apical de las paredes del ventrículo izquierdo. Recibió tratamiento con ventilación mecánica no invasiva, restricción de líquidos y diuréticos. La hiponatremia y la cardiomiopatía resolvieron.Takotsubo syndrome is a form of acute reversible left ventricular dysfunction in the absence of coronary obstruction. An 85-year-old lady with a medical history of transcatheter aortic valve replacement was readmitted complaining of 2 weeks of severe pain by a displaced hip and failed osteosynthesis. While she was scheduled for hip surgery, severe hyponatremia secondary to inappropriate antidiuretic hormone secretion was documented, and sudden-onset pulmonary edema ensued. Echocardiography confirmed normally functioning aortic prosthetic valve and classical features of Takotsubo. She was treated with non-invasive mechanical ventilation, water restriction, and diuretics. Hyponatremia and the cardiomyopathy resolved and the patient recovered completely.

[Anesthetic management in a patient with arrhythmogenic right ventricular cardiomyopathy and an implantable cardioverter defibrillator: a case report]. / Anestesia para paciente com cardiomiopatia arritmogênica do ventrículo direito portador de cardioversor desfibrilador implantável: descrição de caso.

BACKGROUND AND OBJECTIVES: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic cardiomyopathy characterized by potentially lethal ventricular tachycardia. Here we describe a patient with ARVC and an Implantable Cardioverter Defibrillator (ICD) in whom maxillary sinus surgery was performed under general anesthesia. CASE REPORT: The patient was a 59 year-old man who was scheduled to undergo maxillary sinus surgery under general anesthesia. He had been diagnosed as having ARVC 15 years earlier and had undergone implantation of an ICD in the same year. Electrocardiography showed an epsilon wave in leads II, aVR, and V1-V3. Cardiac function was within normal range on transthoracic echocardiography. The ICD was temporarily deactivated after the patient arrived in the operating room and an intravenous line was secured. An external defibrillator was kept on hand for immediate defibrillation if any electrocardiographic abnormality was detected. Remifentanil 0.3 µg/kg/min, fentanyl 0.1 mg, propofol 154 mg, and rocuronium 46 mg were administered for induction of anesthesia. Tracheal intubation was performed orally. Anesthesia was maintained oxygen 1.0 L.min-1, air 2.0 L.min-1, propofol 5.0-7.0 mg.kg-1.h-1, and remifentanil 0.1-0.25 µg.kg-1.min-1. The surgery was completed as scheduled and the ICD was reactivated. The patient was then extubated after administration of sugammadex 200 mg. CONCLUSION: We report the successful management of anesthesia without lethal arrhythmia in a patient with ARVC and an ICD. An adequate amount of analgesia should be administered during general anesthesia to maintain adequate anesthetic depth and to avoid stress and pain.

FLNC Associada a Cardiomiopatia Restritiva e Hipertrabeculação, uma Associação Rara / FLNC Associated Restrictive Cardiomyopathy and Hypertrabeculation, a Rare Association

Resumo Menina de seis anos com cardiomiopatia restritiva e hipertrabeculação na qual, devido ao início precoce da doença, foi realizado sequenciamento completo do exoma, revelando a presença de uma nova variante heterozigótica missense no gene FLNC. A mesma variante genética também foi identificada em seu pai, que, já adulto, apresentava resultados de imagem normais e não apresentava sintomas. Esta variante não foi relatada em bancos de dados populacionais ou na literatura médica atual e é classificada como provavelmente patogênica.

Abstract A six-year-old girl with restrictive cardiomyopathy and hypertrabeculation, due to the early onset of her disease, whole exome sequencing was conducted, revealing the presence of a novel heterozygous missense variant in the FLNC gene. The same gene variant was also identified in her father, who, at an adult age, displayed normal imaging results and was symptom-free. This variant has not been reported in population databases or current medical literature and is classified as likely pathogenic.

Screening for Fabry disease in patients with left ventricular noncompaction.

INTRODUCTION AND AIM: It is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it remains to be clarified whether LVNC is a cardiac manifestation of FD, a coincidental finding or an overdiagnosis, which has major therapeutic implications. This study aims to determine the prevalence of FD among patients with LVNC. METHODS: We performed a retrospective study including all patients diagnosed with LVNC in eight hospital centers. Diagnosis of LVNC was based on at least one echocardiographic or cardiac magnetic resonance criterion. FD screening was performed by combined enzyme and genetic testing. RESULTS: The study included 78 patients diagnosed with LVNC based on the Jenni (84.6%), Stöllberger (46.2%), Chin (21.8%), Petersen (83.8%) and Jacquier (16.2%) criteria. Left ventricular systolic dysfunction was present in 48.7%. Heart failure was found in 60.3%, ventricular dysrhythmias in 21.6% and embolic events in 11.5%. FD screening found no additional cases among patients with LVNC, besides the previously described case. CONCLUSION: No additional FD cases were found among patients with LVNC, which argues against the hypothesis that LVNC is a cardiac manifestation of FD.

Cardiogenic shock induced by Takotsubo cardiomyopathy in early postoperative adrenalectomy period. / Shock cardiogénico secundario a cardiomiopatía de Takotsubo en el postoperatorio inmediato de suprarrenalectomía.

Takotsubo cardiomyopathy is part of the group of diseases called stress-induced cardiomyopathies. Its usual clinical presentation is indistinguishable from an acute coronary syndrome. However, early diagnosis is important, as it may debut as a cardiogenic shock in approximately 8% of cases, with morbidity and mortality rates comparable to those of acute coronary syndrome. For this reason, although it is a relatively infrequent condition, the perioperative period is a stress factor that can act as a trigger of this pathology. A case is presented of the onset of Takotsubo cardiomyopathy as a cardiogenic shock during admission in a Postoperative Recovery Unit.