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.

Cardiomyopathy Induced by Artificial Cardiac Pacing: To Whom, When, Why, and How? Insights on Heart Failure Development

ABSTRACT Coordinated and harmonic (synchronous) ventricular electrical activation is essential for better left ventricular systolic function. Intraventricular conduction abnormalities, such as left bundle branch block due to artificial cardiac pacing, lead to electromechanical "dyssynchronopathy" with deleterious structural and clinical consequences. The aim of this review was to describe and improve the understanding of all the processes connecting the several mechanisms involved in the development of artificially induced ventricular dyssynchrony by cardiac pacing, most known as pacing-induced cardiomyopathy (PiCM). The chronic effect of abnormal impulse conduction and nonphysiological ectopic activation by artificial cardiac pacing is suspected to affect metabolism and myocardial perfusion, triggering regional differences in the activation/contraction processes that cause electrical and structural remodeling due to damage, inflammation, and fibrosis of the cardiac tissue. The effect of artificial cardiac pacing on ventricular function and structure can be multifactorial, and biological factors underlying PiCM could affect the time and probability of developing the condition. PiCM has not been included in the traditional classification of cardiomyopathies, which can hinder detection. This article reviews the available evidence for pacing-induced cardiovascular disease, the current understanding of its pathophysiology, and reinforces the adverse effects of right ventricular pacing, especially right ventricular pacing burden (commonly measured in percentage) and its repercussion on ventricular contraction (reflected by the impact on left ventricular systolic function). These effects might be the main defining criteria and determining mechanisms of the pathophysiology and the clinical repercussion seen on patients.

Research progress of soluble growth stimulating gene 2 protein in cardiovascular disease / 中国基层医药

Growth stimulating gene 2 (ST2) protein is a member of the interleukin-1 receptor family. It is mainly divided into a soluble secreted form sST2 and a transmembrane form ST2L. sST2 is a decoy receptor that competitively binds to interleukin-33 to block the interleukin-33/ST2L signaling pathway, worsening myocardial hypertrophy, fibrosis, and ventricular dysfunction. Measuring sST2 is of important value for diagnosis and/or prognosis evaluation of cardiovascular diseases. This paper mainly reviews the research progress in the relationship between cardiovascular diseases such as heart failure, coronary heart disease, hypertension, atrial fibrillation, myocarditis, cardiomyopathy, acute aortic dissection, and pulmonary hypertension, and sST2.

Lethal mitochondrial trifunctional protein deficiency caused by HADHB gene variation: a case report / 中华围产医学杂志

This article reported a male neonate with lethal mitochondrial trifunctional protein deficiency (MTPD) caused by compound heterozygous variations in the HADHB gene. The patient presented with poor milk intake complicated by abnormal myocardial enzymes within 24 h after birth and was transferred to the Children's Hospital of Nanjing Medical University on day 4. Physical examination revealed no obvious abnormalities on admission. Laboratory examination showed increased creatine kinase isoenzyme and cardiac troponin levels, and electrocardiogram suggested sinus tachycardia and low QRS voltage in limb leads. Blood screening for metabolic abnormalities showed high levels of tetradecenyl carnitine and various 3-hydroxycarnitines. Heterozygous mutations of c.739C>T(p.Arg247Cys) and c.607C>T(p.Arg203Ter,272) were detected in the HADHB gene in the boy, which were pathogenic variants included in the Human Gene Mutation Database. Followed up to three months of age, the boy was readmitted to hospital due to poor milk intake for one week and poor response for 2 d after catching a cold. After admission, he quickly developed multiple organs dysfunction such as heart failure and respiratory failure, and then died. Lethal MTPD is rare with no effective treatment and poor prognosis. Lethal MTPD should be highly suspected when unexplained cardiomyopathy, hypoglycemia, acidosis and other metabolic abnormalities appear in the neonatal period, and an early diagnosis could be confirmed with genetic testing in the neonatal period.

Effect of resveratrol on ferroptosis in cardiomyocytes of mice with diabetic cardiomyopathy / 中华麻醉学杂志

Objective:To evaluate the effect of resveratrol on ferropotosis in cardiomyocytes of mice with diabetic cardiomyopathy.Methods:Thirty healthy adult male C57BL/6 mice, aged 8 weeks, weighing 22-26 g, were divided into 3 groups ( n=10 each) using a random number table method: control group (group C), diabetic cardiomyopathy group (group DCM) and resveratrol group (group RSV). Freshly prepared streptozotocin (STZ) 40 mg·kg -1·d -1 was intraperitoneally injected for 5 consecutive days to develop the model of type 1 diabetes mellitus. After the model was successfully developed, resveratrol 25 mg·kg -1·d -1 was intragastrically given for 12 consecutive weeks in group RSV, while the equal volume of dimethyl sulfoxide was given instead in group C and group DCM. Echocardiography was performed to examine the cardiac structure and function at the end of the 12th week. Then mice were sacrificed, and myocardial tissue specimens were harvested for microscopic examination of the pathological changes of myocardial tissues (by Hematologist-Eosin staining) and mitochondrial morphology of myocardial cells (with a transmission electron microscope) and for determination of the contents of iron, malondialdehyde (MDA) and glutathione (GSH) (by colorimetry) and expression of glutathione peroxidase 4 (GPX4) (by Western blot). Results:Compared with group C, the left ventricular end-diastolic diameter and left ventricular end-systolic diameter were significantly increased, the left ventricular ejection fraction and left ventricular fractional shortening were decreased, the contents of iron and MDA were increased, the content of GSH was decreased, and the expression of GPX4 was down-regulated in group DCM ( P<0.05). Compared with group DCM, the left ventricular end-diastolic diameter and left ventricular end-systolic diameter were significantly decreased, the left ventricular fractional shortening and ejection fraction were increased, the contents of iron and MDA were decreased, the content of GSH was increased, the expression of GPX4 was up-regulated ( P<0.05), and the pathological changes of myocardial tissues and changes in mitochondrial morphology of myocardial cells were significantly attenuated in group RSV. Conclusions:The mechanism by which resveratrol attenuates myocardial injury and further improves cardiac dysfunction is related to inhibition of ferroptosis in cardiomyocytes of mice with diabetic cardiomyopathy.

Role of caveolin 3 in diabetic cardiomyopathy in mice: relationship with endoplasmic reticulum stress / 中华麻醉学杂志

Objective:To evaluate the role of caveolin 3 (Cav-3) in diabetic cardiomyopathy and the relationship with endoplasmic reticulum stress in mice.Methods:This experiment was performed in two parts. Part Ⅰ in vivo experiment Sixteen clean-grade healthy adult male wild type mice weighing 18-20 g, were divided into 2 groups ( n=8 each) using a random number table method: control group(Control group) and diabetic cardiomyopathy group (DCM group). Another 8 Cav-3 KO mice were selected and served as Cav-3 KO + diabetic cardiomyopathy group (Cav-3 KO+ DCM group). Type 2 diabetic models were developed by high fat diet combined with intraperitoneal injection of streptozotocin (100 mg/kg). The left ventricular ejection fraction (EF), left ventricular short axis shortening rate (FS), left ventricular end-systolic diameter (LVESD) and left ventricular end-diastolic diameter (LVEDD) were measured by B ultrasound at 8 weeks. Then the mice were sacrificed, and the myocardial histomorphology was observed using HE staining. Part Ⅱ in vitro experiment HL-1 cardiomyocytes were divided into 3 groups ( n=6 each)using a random number table method: normal glucose group (NG group), high glucose group (HG group) and high glucose+ methyl-β-cyclodextrin group (HG+ β-CD group). The high glucose model was prepared by adding 50% glucose to a specialized culture medium until the final concentration reached 30 mmol/L, and HL-1 cardiomyocytes were continuously cultivated for 36 h. The cellular injury was assessed using LDH and CCK8 kits. The expression of endoplasmic reticulum stress-related proteins binding immunoglobulin protein (BiP), C/EBP-homologous protein (CHOP) and X-box binding protein 1 (XBP1-s) in myocardial tissues and HL-1 cells was detected by Western blot. Results:In vivo experiment Compared with Control group, the food intake, water intake, and heart mass/body mass were significantly increased, EF and FS were decreased, LVESD and LVEDD were increased, the expression of BiP, CHOP and XBP1-s was up-regulated, the expression of Cav-3 was down-regulated ( P<0.05), and the pathological damage was aggravated in DCM group and Cav-3 KO+ DCM group. Compared with DCM group, EF and FS were significantly decreased, LVESD and LVEDD were increased, the expression of BiP, CHOP and XBP1-s was up-regulated, the expression of Cav-3 was down-regulated ( P<0.05), and the pathological damage was aggravated in Cav-3 KO+ DCM group. In vitro experiment Compared with NG group, the cell viability was significantly decreased, LDH activity was increased, the expression of BiP, CHOP and XBP1-s was up-regulated, and the expression of Cav-3 was down-regulated in HG group and HG+ β-CD group ( P<0.05). Compared with HG group, the cell viability was significantly decreased, LDH was increased, the expression of BiP, CHOP and XBP1-s was up-regulated, and the expression of Cav-3 was down-regulated in HG+ β-CD group ( P<0.05). Conclusions:Down-regulation of Cav-3 expression aggravates myocardial injury in diabetes mellitus, and the mechanism is related to excessive activation of endoplasmic reticulum stress in mice.

Analysis of risk factors for the occurrence and in-hospital prognosis in patients with peripartum cardiomyopathy / 中国医师进修杂志

Objective:To investigate the risk factors for the occurrence and poor in-hospital prognosis in patients with peripartum cardiomyopathy (PPCM).Methods:The clinical data of 35 patients with PPCM and 35 healthy pregnant women in Xuanwu Hospital, Capital Medical University and Beijing Friendship Hospital Affiliated to Capital Medical University from January 2003 to January 2022 were retrospectively analyzed. The personal histories, laboratory examination, imaging examination, cardiac function outcome, etc were collected. According to the left ventricular ejection fraction (LVEF) at discharge, the patients with PPCM were divided into in-hospital recovery group (LVEF≥50%, 18 cases) and prolonged disease group (LVEF<50%, 17 cases). Multivariate Logistic regression analysis was used to analyze independent risk factors of poor in-hospital prognosis in patients with PPCM.Results:Among 35 patients with PPCM, the age was (29.81 ± 5.37) years old, 17 cases (48.57%) complicated with gestational hypertension, 6 cases (17.14%) complicated with gestational diabetes mellitus, 24 cases (68.57%) of New York Heart Association (NYHA) cardiac function classification was Ⅲ to Ⅳ class, and 4 cases died (11.43%). The gestational age in patients with PPCM was significantly shorter than that in healthy pregnant women: (36.26 ± 4.27) weeks vs. (38.54 ± 4.59) weeks, the rates of multiple pregnancy and gestational hypertension were significantly higher than those in healthy pregnant women: 17.14% (6/35) vs. 2.86% (1/35) and 48.57% (17/35) vs. 11.43% (4/35), and there were statistical differences ( P<0.05 or <0.01). Compared with hospital recovery group, the patients in protracted disease group had shorter gestational age, larger left ventricular end-diastolic diameter, higher serum creatinine, C-reactive protein and amino-terminal pro-brain natriuretic peptide (NT-proBNP), worse NYHA cardiac function classification, and there were statistical differences ( P<0.05 or <0.01); but there were no statistical difference in LVEF at the first diagnosis and troponin I between two groups ( P>0.05). Multivariate Logistic regression analysis result showed that elevated creatinine was an independent risk factor for poor in-hospital prognosis in patients with PPCM ( OR = 4.554, 95% CI 1.536 to 13.684, P = 0.018). Conclusions:The gestational hypertension may be a risk factor for PPCM. The gestational hypertension, earlier onset time, enlarged left ventricular end-diastolic diameter, high NT-proBNP, high C-reactive protein, high creatinine and high cardiac function NYHA classification may be risk factors for poor in-hospital prognosis in patients with PPCM; and elevated creatinine is an independent risk factor for poor in-hospital prognosis in patients with PPCM.

Mechanism of phlegm-stasis co-treatment for myocardial protection in rats with diabetes mellitus by regulating JNK signaling pathway / 国际中医中药杂志

Objective:To observe the intervention mechanism of phlegm-stasis co-treatment for the JNK signaling pathway in the myocardium of diabetes rats.Methods:Totally 50 male SD rats of SPF grade were selected. Diabetes model was established by single intraperitoneal injection of 55 mg/kg streptozotocin (STZ) solution. After continued feeding for 3 weeks, the rats were divided into normal group, model group, alachloramine group, blood stasis removing group, phlegm removing group and phlegm-blood stasis co-treatment group according to random number table method, with 6 rats in each group. Xiaoxianxiong Decoction (4.05 g/kg), Xuefu Zhuyu Decoction (7.02 g/kg), Didang Xianxiong Decoction (8.10 g/kg) were administered to the stomach respectively in the phlegm removing group, the blood stasis removing group and the phlegm-blood stasis co-treatment group. Alachloramine (3 mg/kg) was administered to the stomach by gavage in the alachloramine group. After 8 weeks, HE staining was used to observe the morphological changes of myocardial tissue in diabetic rats. Masson staining was used to observe the deposition of collagen fibers in the myocardial interstitium in rats. The expression of JNK1 protein was determined by immunohistochemistry. JNK1 mRNA, IRS1 mRNA and NLRP3 expression levels were detected by Real-time PCR. Western blot was used to detect the protein expressions of IRS-1, p-Akt and NLRP3.Results:The myocardial cells in the model group were disorganized, with hypertrophy, blurred texture, inflammatory infiltration of interstitium, increased collagen fibers, and focal necrosis. All treatment groups could improve fibrosis, inflammatory infiltration and reduce myocardial collagen deposition in different degrees. Compared with the model group, the mRNA and protein expressions of JNK1 and NLRP3 bodies decreased ( P<0.01), the IRS-1 mRNA and protein increased ( P<0.01), and p-Akt protein expression increased ( P<0.01). Conclusions:The phlegm and stasis co-treatment can effectively improve the cardiomyopathy of diabetes rats, and the effect is better than the phlegm-resolving method or the stasis resolving method alone. The mechanism may be related to the inhibition of JNK signaling pathway activation, reduce the expressions of JNK1 and NLRP3, and increase the IRS-1 and Akt.

Hypertrophic cardiomyopathy. Proposal for a new classification / Miocardiopatía hipertrófica. Propuesta de una nueva clasificación

Abstract Hypertrophic cardiomyopathy (HCM) is a clinical condition, but its name has been subjected to frequent changes over the years, largely because of its morphological and functional heterogeneity, which leads the clinician who is focused on its study to have difficulty in understanding how to diagnose it and when and how to treat it. Regarding its name, it has been called in more than 75 different ways, and it has being classified with difficulty through echocardiography for more than 40 years. Today, it is necessary to understand that the diverse phenotypic behavior, as well as the evolutionary stages of the disease, must be approached in a practical and effective way, so that it easier to understand its clinical behavior and prognosis, as well as the therapeutic needs in each particular case. We review the aspects related to the name of the condition and propose a new classification that could provide the clinical and surgical cardiologist a better understanding of HCM in its various morphological and functional aspects.

Resumen La Miocardiopatía Hipertrófica es una entidad clínica que ha sido sometida durante años a cambios frecuentes en su denominación, en gran parte consecuencia de su heterogeneidad morfológica y funcional, lo que hace que el clínico enfocado a su estudio, tenga dificultad en el entendimiento de cómo hacer el diagnóstico y cuándo y cómo tratarle. Nominativamente ha sido llamada de más de 75 formas diferentes y clasificada con dificultad mediante ecocardiografía hace ya más de 40 años. Hoy en día es necesario entender que su comportamiento fenotípico diverso así como las etapas evolutivas de la enfermedad, deben ser abordadas de una forma práctica y eficaz, de tal forma que ello facilite el entendimiento de su comportamiento clínico y su pronóstico, así como de las necesidades terapéuticas en cada caso en particular. Se hace una revisión de los aspectos nominativos de la entidad y proponemos una nueva clasificación que podría facilitar al cardiólogo clínico y quirúrgico un mejor entendimiento de la Miocardiopatía Hipertrófica en sus diversas formas morfológicas y funcionales.

Registro Nacional Argentino de Resonancia Cardíaca (RENAREC) / Argentine National Cardiac Magnetic Resonance Imaging Registry (RENAREC)

RESUMEN Introducción: La utilidad de la resonancia magnética cardíaca (RMC) ha crecido ampliamente en los últimos años, en los cuales se han publicado distintos registros internacionales sobre su uso e impacto clínico. Sin embargo, no contamos con este tipo de información en Argentina. Objetivo: Evaluar indicaciones, protocolos utilizados, seguridad y consecuencias terapéuticas de la RMC en la República Argentina. Material y métodos: Se diseñó un registro prospectivo a nivel nacional con recolección de datos demográficos, indicaciones de RMC, complicaciones asociadas, diagnósticos y consecuencias terapéuticas. Resultados: Participaron 34 centros de 10 provincias de Argentina (85% centros privados, 59% centros con internación). Se incluyeron 1131 pacientes (edad 54 ± 18 años, 61% varones). Las principales indicaciones para el estudio de RMC fueron la miocardiopatía hipertrófica (13,9%) y la arritmia ventricular (12,3%). El 99,7% de los estudios fueron reportados sin complicaciones. Los resultados más frecuentes de la RMC fueron: normal (31,2%), miocardiopatía no isquémica (14,7%), miocardiopatía isquémico-necrótica (11,6%) y miocardiopatía hipertrófica (8,9%). La sospecha clínica fue confirmada en el 23,6% de los casos y la RMC generó un diagnóstico nuevo no sospechado en el 48,7% de los casos. Las consecuencias terapéuticas más frecuentes fueron el alta hospitalaria (31,6%) seguida por el cambio en la medicación (28,1%). Conclusiones: La RMC es un estudio ampliamente utilizado en Argentina, principalmente en centros privados, con un número muy bajo de complicaciones. Las principales indicaciones son las miocardiopatías (hipertrófica y dilatada) y la arritmia ventricular, y provee un diagnóstico nuevo no sospechado en casi la mitad de los casos. Se requieren de otros estudios en el futuro para evaluar las implicancias clínicas y terapéuticas.

ABSTRACT Background: The usefulness of cardiac magnetic resonance imaging (MRI) has greatly increased in the last years. Different international registries have been published on its use; however, there is no data available from Argentina. Objective: The aim of this study was to evaluate different indications, protocols, safety and therapeutic consequences of cardiac MRI in Argentina. Methods: A prospective national registry was designed with collection of demographic data, indications for cardiac MRI, associated complications, diagnoses and therapeutic consequences. Results: A total of 34 centers from 10 provinces of Argentina (85% private and 59% with inpatient capacity) participated in the study, including 1131 patients (mean age 54±18 years and 61% males). The main indications for cardiac MRI were hypertrophic cardiomyopathy (13.9%), and ventricular arrhythmia (12.3%). In 99.7% of cases, no study complications were reported. The most frequent results of cardiac MRI were: normal (31.2%), non-ischemic cardiomyopathy (14.7%), ischemic-necrotic cardiomyopathy (11.6%) and hypertrophic cardiomyopathy (8.9%). Clinical suspicion was confirmed in 23.6% of cases and cardiac MRI generated an unsuspected new diagnosis in 48.7% of cases. The main therapeutic consequences were hospital discharge (31.6%) followed by change in medication (28.1%). Conclusions: Cardiac MRI is widely used in Argentina, mainly in private centers with a very low incidence of complications. Cardiomyopathies (hypertrophic and dilated) and ventricular arrhythmia are its main indication, and it provides a new unsuspected diagnosis in almost half of the cases. Further studies are required to assess its clinical and therapeutic impact.

Chronic Obstructive Pulmonary Disease: The Role of Myocardial Deformation Indices and Right Ventricle Three-Dimensional Echocardiography

Abstract Background: Right ventricular dysfunction is a major complication in chronic obstructive pulmonary disease (COPD) and, despite its prognostic implications, is rarely considered in routine clinical analysis. Objectives: To compare RV function variables with standard and advanced echocardiographic techniques in patients with stable COPD and controls. Methods: Twenty COPD patients classified as GOLD ≥ II (13 men aged 68.4 ± 8.3 years) and 20 matched controls were compared. Myocardial strain/strain rate indices were obtained by tissue Doppler and two-dimensional speckle tracking echocardiography. Right ventricular ejection fraction was obtained with three-dimensional software. Free wall myocardial thickness (FWMT) and tricuspid annular systolic excursion (TAPSE) were also measured. Numerical variables were compared between groups with Student's t-test or the Mann-Whitney test. Associations between categorical variables were determined with Fisher's exact test. P-values < 0.05 were considered statistically significant. Results: All myocardial deformation indices, particularly global longitudinal strain (-17.2 ± 4.4 vs -21.2: ± 4.4 = 0.001) and 3D right ventricular ejection fraction (40.8 ± 9.3% vs 51.1 ± 6.4% p <0.001) were reduced in COPD patients. These patients presented higher right ventricular FWMT and lower TAPSE values than controls. Conclusion: Myocardial deformation indices, either tissue Doppler or speckle tracking echocardiography and 3D right ventricular ejection fraction, are robust markers of right ventricular dysfunction in patients with stable COPD. Assessing global longitudinal strain by speckle tracking echocardiography is a more practical and reproducible method.

Combined Heart and Kidney Transplantation: Initial Clinical Experience

ABSTRACT Introduction: Combined solid organ transplantation is infrequently performed in Brazil. The objective of this article is to present our initial experience with combined heart and kidney transplantation. Methods: From January 2007 to December 2019, four patients were submitted to combined heart and kidney transplantation. Their mean age was 55.7±4.4 years, and three (75%) patients were males. All patients had Chagas cardiomyopathy, two were hospitalized and inotrope dependent, and all patients were on preoperative dialysis (median of 12 months prior to transplant). Results: All patients survived and were in New York Heart Association functional class I at the latest follow-up (mean 34.7±17.5 months). Mean retarded kidney graft function was 22.9±9.7 days. One patient lost the kidney graft two years after the transplant due to Polyomavirus infection. Conclusion: Our initial experience of combined heart and kidney transplantation was favorable in selected patients with advanced heart failure and end-stage kidney disease. It requires involvement of a dedicated multispecialty team throughout all the diagnostics and treatment steps.

Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation

Abstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with isolated left ventricular apical hypoplasia and arthrogriposis but with no mutations in the entire Lamin A/C gene.

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.

A case of peripartum cardiomyopathy with recurrent ventricular fibrillation rescued by extracorporeal membrane oxygenation / 中华围产医学杂志

Peripartum cardiomyopathy (PPCM) often develops in the early postpartum period, especially within one month after delivery. However, in recent years, some cases of pregnancy-related cardiomyopathy with earlier or slightly later onset showed similar features with PPCM entirely. One patient with PPCM was admitted to the Department of Intensive Care Medicine of the First Affiliated Hospital of Bengbu Medical College on February 2022. After admission, the patient was exceptionally hemodynamically unstable and had repeated ventricular fibrillation. Apart from extracorporeal membrane oxygenation (ECMO) support, comprehensive treatment with cardiotonic agents and drugs to inhibit the "ventricular electric storm" was given. The cardiac structure and function were gradually improved. ECMO was successfully withdrawn on the 7th day after the onset of symptoms, and the patient was discharged after a full recovery. Early diagnosis and active intervention are the keys to improve the prognosis of patients with PPCM and avoid irreversible changes in cardiac structure.

Cardiodesfibrilador implantable: estado del arte / Cardiac defibrillators: state of the art

Resumen La muerte súbita cardiaca es una consecuencia devastadora de las enfermedades estructurales del corazón y un problema de salud pública en todo el mundo; es responsable de alrededor del 50% de las muertes por causa cardiovascular. Su incidencia es mayor en personas por encima de los de 40 años, siendo en esta población la cardiopatía isquémica instaurada o durante la fase aguda del infarto al miocardio los factores de riesgo más importantes; sin embargo, hay otros factores no relacionados con isquemia, como la cardiomiopatía dilatada, hipertrófica o valvular. La fibrilación y la taquicardia ventricular son la causa más frecuente de muerte súbita cardiaca en adultos. Los cardiodesfibriladores implantables son ampliamente utilizados y recomendados por las sociedades de cardiología para la prevención primaria y secundaria de la muerte súbita cardiaca.

Abstract Sudden cardiac death is a devastating consequence of structural heart disease and a global public health problem, accounting for close to 50% of cardiovascular deaths. Its incidence is greater in people over the age of 40, with the most important risk factors being: established ischemic heart disease or ischemia during the acute phase of a myocardial infarction. However, there are other factors, unrelated to ischemia, such as dilated, hypertrophic, or valvular cardiomyopathy. Ventricular fibrillation and tachycardia are the most frequent causes of sudden cardiac death in adults. Implantable cardioverter-defibrillators are widely used and recommended by cardiology societies for primary and secondary prevention of sudden cardiac death.