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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.
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ABSTRACT Introduction: The aim of our study is to compare the early and mid-term outcomes of patients with hypertrophic obstructive cardiomyopathy who underwent classic and modified Morrow septal myectomy. Methods: Between 2014 and 2019, 48 patients (24 males; mean age 49.27±16.41 years) who underwent septal myectomy were evaluated. The patients were divided into two groups - those who underwent classic septal myectomy (n=28) and those who underwent modified septal myectomy (n=20). Results: Mitral valve intervention was higher in the classic Morrow group than in the modified Morrow group, but there was no significant difference (P=0.42). Mortality was found to be lower in the modified Morrow group than in the classic Morrow group (P=0.01). In both groups, the mean immediate postoperative gradient was significantly higher than the mean of the 3rd and 12th postoperative months. The preoperative and postoperative gradient difference of the modified Morrow group was significantly higher than of the classic Morrow group (P<0.001). Conclusion: Classic Morrow and modified Morrow procedures are effective methods for reducing left ventricular outflow tract obstruction. The modified Morrow procedure was found to be superior to the classic Morrow procedure in terms of reducing the incidence of mitral valve intervention with the reduction of the left ventricular outflow tract gradient.
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La miocardiopatía hipertrófica (MCH) es la miocardiopatía hereditaria más frecuente, su principal expresión fenotípica consiste en hipertrofia ventricular izquierda (HVI) en ausencia de condiciones de carga que la justifiquen. Cuando existe una variante genética patogénica se denomina MCH sarcomérica. Los criterios diagnósticos más aceptados son HVI ≥ 15 mm en cualquier segmento o ≥ 13 en ciertas condiciones, criterios que tienen tres inconvenientes: 1) La HCM es una patología donde la HVI es evolutiva, existiendo otros elementos más precoces, pero menos precisos, como criptas, bandas musculares y alteraciones de la válvula mitral y músculos papilares; 2) Pacientes de baja estatura pueden no alcanzar estos umbrales; 3) La MCH apical no queda siempre bien representada usando estos grosores, requiriendo indexar por tamaño del paciente y/o considerar la HVI relativa (relación grosor apical / basal que no debe superar 1). Presentamos una serie de casos con genotipo confirmado para MCH que no cumplen los criterios de HVI aceptados para MCH y donde se debe individualizar el diagnóstico considerando los tres elementos señalados.
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac condition; its phenotypic expression consists of ventricular hypertrophy (LVH) unrelated to loading conditions. In patients with a genetic pathogenic variant, the condition is termed sarcomeric HCM. Current diagnostic criteria are based on absolute left ventricular thickness, requiring ≥15 mm in any segment or ≥13 mm in particular conditions. These criteria have three pitfalls: 1) HCM is an evolving disease where LVH occurs gradually, with other early -but less precisephenotypic expressions such as myocardial crypts, muscular bands, or mitral and papillary muscle alterations; 2) Patients with short stature tend to have less LVH and do not reach the proposed thickness threshold. 3) Apical HCM is not correctly addressed in this cut-off as the heart tapers from base to apex, warranting indexing wall thickness to body size and using relative LVH in the apex (ratio from apex/base, abnormal,>1). This small case series includes three patients with a pathogenic genetic variant for HCM that doesn't satisfy the current criteria of LVH. For its precise assessment, the aforementioned points must be considered.
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Queloides e cicatrizes hipertróficas são lesões formadas a partir da resposta fibroproliferativa anormal ao processo de cicatrização de feridas, gerando uma proliferação excessiva do colágeno nas lesões. Geralmente, predominam em pacientes do sexo feminino e em indivíduos com tons de pele mais escuros. A abordagem terapêutica dessas cicatrizes pode ser indicada de acordo com alguns critérios, como déficit funcional, tamanho e tempo de cicatrização da ferida. Nesse sentido, o presente estudo objetivou realizar uma revisão descritiva da literatura, buscando as evidências de tratamento dos últimos cinco anos neste tema. A revisão foi realizada com base no guideline PRISMA, utilizando as bases de dados PubMed, LILACS, Cochrane Library, SCOPUS, Web of Science e Grey Literature, entre os anos de 2018 e 2022. Foram encontrados 740 artigos, dos quais 16 ensaios clínicos randomizados foram selecionados. Foi evidenciado que manejo do queloide apresenta abordagem multimodal, não havendo um padrão-ouro de tratamento, com taxa de recorrência baixa. Além disso, a terapia combinada de diferentes agentes pareceu ser superior ao uso isolado de métodos terapêuticos no tratamento dessas lesões.
Keloids and hypertrophic scars are lesions formed from the abnormal fibroproliferative response to the wound healing process, generating excessive collagen proliferation in the lesions. They generally predominate in female patients and individuals with darker skin tones. The therapeutic approach to these scars can be indicated according to criteria such as functional deficit, size, and wound healing time. In this sense, the present study aimed to conduct a descriptive review of the literature, seeking evidence of treatment over the last five years. The review was carried out based on the PRISMA guideline, using the databases PubMed, LILACS, Cochrane Library, SCOPUS, Web of Science, and Grey Literature between 2018 and 2022. Seven hundred forty articles were found, of which 16 randomized clinical trials were selected. It was demonstrated that keloid management presents a multimodal approach, with no gold standard of treatment with a low recurrence rate. Furthermore, combined therapy with different agents appeared superior to the isolated therapeutic methods in treating these injuries.
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Introducción: La hipertrofia del esfínter pilórico (EHP) es una condición que se caracteriza por la obstrucción del vaciamiento gástrico fisiológico y se considera una patología de resolución quirúrgica. Objetivo: Realizar la caracterización de los pacientes con hipertrofia congenita del píloro atendidos en el Hospital Regional de la Orinoquía entre 2010 y 2020. Metodología: Estudio observacional, descriptivo y retrospectivo en el cual se incluyeron los pacientes que consultaron al Hospital Regional de la Orinoquía entre el 01 de enero del 2010 y el 31 de diciembre del 2020 y que presentaron diagnóstico de hipertrofia congenita del píloro, identificados mediante los códigos CIE 10. Resultados: En total, se incluyeron 18 pacientes que cumplían con los criterios de selección. El promedio de edad de los participantes fue de 24,3 días de edad. La mayoría eran varones, asimismo, dos pacientes presentaban sobrepeso al nacer. El síntoma predominante fue la emesis posprandial en un 100 %. El diagnóstico se realizó mediante las medidas del píloro con ecografía abdominal y a la totalidad de los pacientes se les realizó piloromiotomía, de los cuales uno solo requirió una reintervención, sin embargo, ningún paciente falleció. Conclusiones: La hipertrofia congenita del píloro es una entidad patológica poco común, su síntoma clínico cardinal es la emesis postprandial. El método diagnóstico por excelencia es el estudio ecográfico. A pesar de su complejidad, esta entidad patológica tiene un buen pronóstico a corto y largo plazo.
Introduction: Hypertrophic pyloric stenosis (HPS) is a condition that is characterized by the obstruction of physiological gastric emptying and is considered a surgically-resolved pathology. Objective: To characterize patients with congenital hypertrophy of the pylorus treated at the Regional Hospital of Orinoquía between 2010 and 2020. Methods: Observational, descriptive and retrospective study of patients who were admitted at the Orinoquía Regional Hospital between January of 2010 and December of 2020. The patients that were included had a diagnosis of hypertrophic pyloric stenosis identified by the ICD-10 codes. Results: A total of patients were included by selection criteria. The average age of participants was 24.3 days old. Most of them were males and 2 patients were overweight at birth. The most common symptom was postprandial emesis in 100%. The diagnosis was made through measurements of pylorus measured with abdominal ultrasound. All the patients performed pyloromyotomy, and only one required a surgical reintervention, however, the mortality was 0. Conclusions: Congenital hypertrophy of pylorus is an uncommon pathology, whose cardinal symptom is postprandial emesis. The ideal diagnostic method is an ultrasound study. Despite its complexity, this pathology has a good short and long-term prognosis.
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Abstract Background: Surgeons create a neorectum to repair patients with Hirschsprung´s disease (HD), which should be formed from a normoganglionic bowel. However, the neorectum is occasionally created with a transition zone (TZ) bowel. A neorectum created with a TZ has been postulated as a cause of postoperative enterocolitis or constipation. This study compares the incidence of enterocolitis and constipation in patients with TZ neorectum and normoganglionic bowel. Methods: We conducted a retrospective review of patients with rectosigmoid HD who underwent primary pull-through. Patients were divided into normoganglionic neorectum (NNR) and TZ neorectum. The diagnosis was based on the final histopathologic report of the proximal margin. The incidence of enterocolitis and constipation was compared between these two groups. Results: A total of 98 HD patients were analyzed. Seventy-one patients fulfilled the inclusion criteria. 65 (92%) had a NNR, and six patients (8%) had a TZ neorectum. From these patients, 42 (59%) presented with enterocolitis or constipation. However, there was no significant difference between both groups. Conclusion: The present study showed no difference in the incidence of enterocolitis or postoperative constipation in HD patients with normoganglionic or TZ neorectum. These results suggest that TZ neorectum does not cause postoperative obstructive symptoms.
Resumen Introducción: Los cirujanos crean un neo-recto para tratar a los pacientes con enfermedad de Hirschsprung (EH), que debe formarse con intestino normogangliónico; sin embargo, en ocasiones el neo-recto se forma con intestino de la zona de transición. Se ha postulado que un neo-recto en zona de transición causa enterocolitis o estreñimiento postoperatorio. El objetivo de este estudio fue comparar la frecuencia de enterocolitis y estreñimiento en pacientes con neo-recto en zona de transición y con neo-recto normogangliónico. Métodos: Se llevó a cabo una revisión retrospectiva de pacientes con EH recto sigmoideo que se sometieron a descenso primario. Los pacientes se dividieron en el grupo neo-recto normogangliónico y el grupo con neo-recto en zona de transición. El diagnóstico del neo-recto se estableció con el informe histopatológico definitivo del margen proximal. Se comparó la frecuencia de enterocolitis y estreñimiento entre estos dos grupos. Resultados: Se analizó un total de 98 pacientes con EH, de los cuales 71 pacientes cumplieron los criterios de inclusión; 65 (92%) con neo-recto normogangliónico y seis (8%) con neo-recto en zona de transición. Posteriormente, 42 (59%) pacientes presentaron enterocolitis asociada a Hirschsprung (HAEC) o estreñimiento; sin embargo, no hubo diferencia significativa entre ambos grupos. Conclusiones: El presente estudio no demostró una diferencia en la frecuencia de HAEC o estreñimiento postoperatorio en pacientes con EH con neo-recto normogangliónico o en zona de transición. Estos resultados sugieren que un neo-recto en zona de transición no causa síntomas obstructivos postoperatorios.
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Resumen Introducción: El desfibrilador automático implantable (DAI) transvenoso es el tratamiento de elección para la prevención de muerte súbita (MS) cardiaca por arritmias ventriculares malignas. Su uso se puede ver limitado cuando existe infección del sistema de estimulación o en población pediátrica donde representa un reto por diversas razones, incluyendo: las mínimas dimensiones del sistema venoso de los niños, la longitud de los electrodos, el tamaño del generador, así como por la complejidad anatómica en casos de cardiopatía congénita asociada. Objetivo: El presente artículo tiene por objetivo presentar la primera serie de casos de pacientes mexicanos a los cuales se les implantó un DAI subcutáneo (DAI-SC) como terapia para la prevención de MS. Métodos: Se presentan los cuatro primeros casos que fueron implantados en el Instituto Nacional de Cardiología Ignacio Chávez con un DAI-SC (Emblem, Boston Scientific, EE.UU.), tres de ellos eran pacientes pediátricos, incluyendo el primer implante de este tipo de dispositivo en un paciente pediátrico en América Latina. Las técnicas de tres y dos incisiones fueron empleadas bajo anestesia general. Resultados: Se realizó el implante exitoso con técnica de tres incisiones en los dos primeros casos y con técnica de dos incisiones en los dos últimos casos. Se corroboró el adecuado funcionamiento del dispositivo en sala, con la verificación de terapia apropiada (65 J) de la fibrilación ventricular inducida mediante estimulación a 50 Hz. No hubo complicaciones inmediatas. Un paciente presentó descargas apropiadas a los dos meses del implante. En el seguimiento, un niño desarrolló erosión de la piel a nivel de la curva del electrodo en el esternón, sin datos de infección. En quirófano se resecó la piel dañada, se retiró el barril y la seda de fijación, se realizó lavado quirúrgico y se volvió a cerrar la piel, logrando así evitar el retiro del sistema. Conclusiones: El DAI-SC es una terapia alternativa al DAI endovenoso y puede ser considerado de primera elección en aquellos casos que no requieran de estimulación ventricular, incluyendo pacientes pediátricos. Pueden ocurrir complicaciones cutáneas, pero no representan una amenaza como las complicaciones venosas de los DAI convencionales.
Abstract Introduction: The transvenous implantable cardioverter defibrillator (ICD) is the treatment of choice for the prevention of sudden cardiac death (SCD). Its use could be restricted when device-related infections occurs or in the pediatric population. In the later, an ICD represents a challenge, due to the minimal dimensions of the venous system in children, the length of the electrodes, the size of the generator, as well as the anatomical complexity in cases with associated congenital heart disease. Objective: This article presents the first Mexican patients with a subcutaneous ICD (SC-ICD) implant as a therapy for the prevention of SCD. Methods: The first four cases were implanted at the Ignacio Chávez National Institute of Cardiology with a SC-ICD (Emblem, Boston Scientific, USA), three of them were pediatric patients, including the first implant of this type of device in a pediatric patient in Latin America. The 3-incision and 2-incision techniques were used under general anesthesia. Results: A successful implantation was obtained with the 3-incision technique in the first 2 cases and the last 2 with the 2-incision technique. Proper functioning of the device was corroborated in the operating room with proof of appropriate therapy (65 J) for ventricular fibrillation induced with 50 Hz stimulation. No immediate complications were observed. One patient had appropriate shocks two months after the implant. During follow-up, one child developed skin erosion at the level of the curve of the electrode on the sternum, with no signs of infection. In the operating room, the damaged skin was resected, the barrel and the fixation silk were removed, surgical lavage was performed, and the skin was closed again, thus avoiding removal of the system. Conclusions: The SC-ICD is an alternative therapy to the transvenous ICD. It can be considered first choice in subjects who do not require ventricular pacing, including pediatric patients. Skin complications can occur but do not pose a threat as venous complications of conventional ICDs.
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Introducción: La miocardiopatía hipertrófica (MCH) constituye una enfermedad compleja y variable en cuanto a morfología, fisiopatología, pronóstico y sobrevida. Se caracteriza por una hipertrofia del ventrículo izquierdo, aunque en ocasiones puede ser biventricular o ventricular derecha aislada. En la edad pediátrica predominan las causas no sarcoméricas. La ecocardiografía es el método diagnóstico más utilizado para caracterizar la morfología y repercusión hemodinámica, sin embargo, la resonancia magnética cardíaca (RMC) es de elección por aportar mayores ventajas morfológicas y funcionales. Las pruebas genéticas son de gran importancia en la determinación del diagnóstico etiológico, manejo terapéutico y pronóstico. El tratamiento tiene como objetivo principal mejorar la capacidad funcional y aliviar los síntomas. Los betabloqueantes no vasodilatadores son considerados de primera líneay en algunos casos se puede recurrir a terapias avanzadas como disopiramida o terapia de reducción septal (TRS), uso del cardiodesfibrilador implantable (CDI), y en ocasiones se debe considerar trasplante cardiaco en pacientes con síntomas refractarios al tratamiento médico y en MCH del tipo obstructivo. Materiales y métodos: Estudio observacional, descriptivo, corte transversal. Resultados: Se estudiaron 12 pacientes, desde enero de 2020 a diciembre de 2022, con edades comprendidas desde 5 meses hasta 16 años, diagnosticados con MCH de presentación clínica variable y de distintas etiologías. Conclusión: La MCH de causas no sarcoméricas como los síndromes malformativos y errores innatos del metabolismo son las que tienen peor pronóstico y sobrevida. La finalidad de detectar precozmente la MCH es el inicio temprano de la terapia específica, para así retrasar el compromiso cardiovascular y mejorar la sobrevida.
Introduction: Hypertrophic cardiomyopathy (HCM) is a complex and variable disease in terms of morphology, pathophysiology, prognosis and survival. It is characterized by left ventricular hypertrophy, although it can sometimes be biventricular or isolated right ventricular. In the pediatric population, non-sarcomeric causes predominate. Echocardiography is the most widely used diagnostic method to characterize morphology and hemodynamic repercussions; however, cardiac magnetic resonance imaging (CMR) is preferred because it provides greater morphological and functional advantages. Genetic tests are of great importance in determining the etiological diagnosis, therapeutic management and prognosis. The main objective of the treatment is to improve functional capacity and alleviate symptoms. Non-vasodilator beta-blockers are considered first-line treatment and in some cases advanced therapies such as disopyramide or septal reduction therapy (SRT), use of implantable cardioverter-defibrillator (ICD) can be used; heart transplantation should be considered in patients with symptoms refractory to medical treatment and in HCM of the obstructive type. Materials and methods: This was an observational, descriptive, cross-sectional study. Results: 12 patients were studied, from January 2020 to December 2022, with ages ranging from 5 months to 16 years, diagnosed with HCM of variable clinical presentation and of different etiologies. Conclusion: HCM from non-sarcomeric causes such as malformation syndromes and inborn errors of metabolism have the worst prognosis and survival. The purpose of early detection of HCM is the early initiation of specific therapy, in order to delay cardiovascular compromise and improve survival.
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Hypertrophic cardiomyopathy (HCM) is the most common non-ischemic cardiomyopathy with a prevalence of 1:500 in the general population, based on the recognition of the phenotype. HCM is defined by the presence of increased left ventricular (LV) wall thickness that is not solely explained by abnormal loading conditions and the phenotype also includes disorganized myocyte arrangement, fibrosis, small-vessel disease, and abnormalities of the mitral valve apparatus. In particular to this pathology, we have conducted a one-year prospective study to determine clinical, echocardiographic features and etiopathogenic aspects of hypertrophic cardiomyopathy in the Casablanca university hospital. The results concluded that 50% of the causes was due to amyloidosis 35%, sarcomeric HCM and 15% Fabry disease in which 2 cases were related with pregnancy. Transthoracic echocardiography and cardia MRI plays an important role in HCM diagnosis and prognosis.
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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.
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Abstract Background Hypertrophic scar (HS), a fibroproliferative disorder caused by aberrant wound healing following skin injuries such as burns, lacerations and surgery, is characterized by invasive proliferation of fibroblasts and excessive extracellular matrix (ECM) accumulation. The dysregulation of autophagy is the pathological basis of HS formation. Previously, angiopoietin-2 (ANGPT2) was found to be overexpressed in HS fibroblasts (HSFs) compared with normal skin fibroblasts. However, whether ANGPT2 participates in the process of HS formation and the potential molecular mechanisms are not clear. Objective This study is intended to figure out the role of ANGPT2 and ANGPT2-mediated autophagy during the development of HS. Methods RT-qPCR was used to detect ANGPT2 expression in HS tissues and HSFs. HSFs were transfected with sh-ANGPT2 to knock down ANGPT2 expression and then treated with MHT1485, the mTOR agonist. The effects of sh-ANGPT2 or MHT1485 on the proliferation, migration, autophagy and ECM accumulation of HSFs were evaluated by CCK-8 assay, Transwell assay and western blotting. The expression of PI3K/Akt/mTOR pathway-related molecules (p-PI3K, p-Akt and p-mTOR) was assessed by western blotting. Results ANGPT2 expression was markedly upregulated in HS tissues and HSFs. ANGPT2 knockdown decreased the expression of p-PI3K, p-Akt and p-mTOR. ANGPT2 knockdown activated autophagy and inhibited the proliferation, migration, and ECM accumulation of HSFs. Additionally, the treatment of MHT1485, the mTOR agonist, on ANGPT2-downregulated HSFs, partially reversed the influence of ANGPT2 knockdown on HSFs. Study limitations The study lacks the establishment of more stable in vivo animal models of HS for investigating the effects of ANGPT2 on HS formation in experimental animals. Conclusions ANGPT2 downregulation represses growth, migration, and ECM accumulation of HSFs via autophagy activation by suppressing the PI3K/Akt/mTOR pathway. Our study provides a novel potential therapeutic target for HS.
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Objective:To investigate the effect of mid-ventricular obstruction (MVO) on left ventricular systolic function in patients with hypertrophic cardiomyopathy(HCM) by four-dimensional automatic left ventricular quantitation technology(4D Auto LVQ).Methods:Fifty-seven hypertrophic obstructive cardiomyopathy patients were selected from December 2020 to October 2022 in the First Affiliated Hospital of Zhengzhou University. According to the presence of MVO, HCM patients were divided into two groups: HCM 1 group, HCM without MVO ( n=34); HCM 2 group, HCM with MVO ( n=23). In addition, 25 healthy subjects in the same period were selected as the control group. Conventional ultrasound parameters were collected, and 4D Auto LVQ technology was used to obtain the mechanical parameters of left ventricular myocardium, including left ventricular longitudinal strain (GLS), circumferential strain (GCS), area strain (GAS), radial strain (GRS), segmental longitudinal strain (SLS) and area strain (SAS). The differences of these parameters among the three groups were compared. Results:①Compared with the control group, the thickness of the maximum basal segment of interventricular septum, the thickness of the middle segment of the maximum interventricular septum, the thickness of the apical segment of the interventricular septum, the thickness of the left ventricular posterior wall and left atrium diameter were significantly increased. Six-minute walk distance and the left ventricular end-diastolic diameter was decreased in the two groups of HCM(all P<0.05). Left ventricular outflow tract gradients in HCM 1 group was higher than HCM 2 group( P<0.05), but there was no significant difference in left ventricular ejection fraction among the three groups( P>0.05). There was significant difference in the incidence of left ventricular apical aneurysm among the three groups( P<0.05). ②Compared with the control group, the GLS in both HCM groups was lower, and it was lower in the HCM 2 group than in the HCM 1 group(all P<0.05) the GRS and GAS in both HCM groups were lower than in the control group ( P<0.05), and there was no significant difference between the two groups of HCM, and there was no significant difference in GCS among the three groups(all P>0.05). ③Compared with the control group, the SLS of basal segment, middle segment, apical cap, posterior septum, inferior wall and lateral wall in HCM group were significantly lower than those in control group. The SLS of apical segment of posterior septum, anterior septum, anterior wall, posterior wall, inferior wall and apical segment of posterior septum, lateral wall and inferior wall in HCM 2 group were significantly lower than HCM 1 group(all P<0.05), but there was no significant difference in SLS of posterior septum, anterior septum, anterior wall, lateral wall and inferior wall between the two groups(all P>0.05). ④Compared with the control group, the SAS of posterior septal basal segment, middle segment, anterior septal middle segment, anterior wall basal segment, middle segment, apical segment, lateral wall basal segment, middle segment, apical segment, posterior wall basal segment, middle segment, inferior wall basal segment, middle segment and apical cap in HCM groups were significantly lower than the control group(all P<0.05), but there was no significant difference in SAS between the two groups of HCM( P>0.05). Conclusions:4D Auto LVQ can quantitatively evaluate the damage of MVO on the left ventricular systolic function in patients with HCM, especially for the evaluation of local myocardial function damage in the medial segment and apical segment.
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Objective:To explore the application value of four-dimensional automatic left ventricular quantitation(4D Auto LVQ) technology, in evaluating the myocardial mechanics in patients with different risk stratifications of hypertrophic cardiomyopathy(HCM).Methods:A total of 88 HCM patients and 20 healthy volunteers were selected from February 2020 to February 2022 in the First Affiliated Hospital of Zhengzhou University. According to the HCM Risk-SCD score, HCM patients were divided into 3 groups: low-risk group( n=49), intermediate-risk group( n=21), and high-risk group( n=18). Conventional ultrasound parameters were collected, and 4D Auto LVQ technology was used to obtain the mechanical parameters of left ventricular myocardium, including global longitudinal strain(GLS) , global circumferential strain(GCS), global area strain(GAS), global radial strain(GRS), twist and torsion. The differences in these parameters among the four groups were compared. The predictive values of conventional ultrasound parameters and myocardial mechanical parameters in patients with intermediate- and high-risk HCM patients were analyzed by ROC curve. Results:①Left ventricular end-diastolic diameter, left ventricular end-diastolic volume, left ventricular end-systolic volume, and peak systolic velocity of mitral annulus in the low-, intermediate-, and high-risk groups were lower than those in the control group while left ventricular maximal wall thickness(LVMWT) and early diastolic peak velocity of mitral value orifice/early diastolic peak velocity of mitral annulus(E/e′) were higher, left atrial diameter(LAD) and left ventricular outflow tract gradients(LVOTG) in the intermediate- and high-risk groups were higher than the low-risk group(all P<0.05). ②Compared with the control group, the GLS of HCM patients was lower, and the GLS of the intermediate- and high-risk groups was lower than the low-risk group. GCS and GRS in the intermediate- and high-risk groups were lower than those in the low-risk group. GAS in the high-risk group was lower than the low-risk and the control group, but higher than the intermediate-risk group(all P<0.05). Compared with the control group, the twist and torsion in the intermediate- and high-risk groups were higher, but lower than the low-risk group, and the differences were statistically significant(all P<0.05). ③The ROC results showed that the area under the curve(AUC) of the model containing conventional ultrasound parameters(LVWMT, LAD, and LVOTG) for predicting intermediate- and high-risk HCM patients was 0.811, with a sensitivity of 0.769 and a specificity of 0.755. The AUC of the conventional ultrasound parameters combined with myocardial mechanical parameters was 0.904, as the sensitivity was 0.667 and the specificity was 0.980. Conclusions:4D Auto LVQ can evaluate the mechanical characteristics of LV myocardium in HCM patients with different risk stratifications. Myocardial mechanical parameters combined with conventional ultrasound parameters can improve the diagnostic performance of patients with intermediate- and high-risk HCM.
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Objective:To investigate the effect of percutaneous intramyocardial septal radiofrequency ablation (PIMSRA) guided by echocardiography on the Lown classification of ventricular arrhythmias in patients with hypertrophic obstructive cardiomyopathy (HOCM).Methods:A total of 85 patients with HOCM who received PIMSRA treatment at Xijing Hospital of Air Force Military Medical University from May 2017 to October 2019 were retrospectively selected. All patients underwent 24-hour Holter examinations before and 1 year after PIMSRA to obtain parameters related to Lown classification. The changes in Lown grades after PIMSRA were analyzed. The patients were divided into improved group and unimproved group according to whether there was significant improvement in Lowen′s grades, and the difference of the parameters related were compared. The influencing factors of the changes in Lown classification were analyzed.Results:Compared with before PIMSRA, there was a significant improvement in the Lown classification after PIMSRA ( P=0.001). The patients with Lown grade Ⅰ increased significantly ( P=0.001), and the patients with grade Ⅲ decreased significantly ( P=0.005). There were no significant changes in patients with Lown grades 0, Ⅱ, and Ⅳ (all P>0.05). The proportion of patients with family history of hypertrophic cardiomyopathy (HCM), the baseline Lown classes, the reduction rate of the maximum left ventricular wall thickness and the reduction rate of the provocative left ventricular outflow tract gradient (LVOTG) were higher in the improved group than the unimproved group (all P<0.05). Multivariate Logistic regression results showed that HCM family history ( OR=3.95, 95% CI=1.34-11.64, P=0.013), baseline Lown classes ( OR=2.01, 95% CI=1.25-3.22, P=0.004) and the reduction rate of the provocative LVOTG gradient ( OR=1.02, 95% CI=1.00-1.04, P=0.041) were independent factors of postoperative Lown classification improvement. Conclusions:The Lown classes of HOCM patients after PIMSRA is significantly improved.HCM family history, the baseline Lown classes, and the reduction rate of postoperative provocative LVOTG are independent influencing factors for the improvement of Lown grade.
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Objective:To evaluate the clinical efficacy of percutaneous intramyocardial septal radiofrequency ablation (PIMSRA) in the treatment of obstructive hypertrophic cardiomyopathy (HOCM) with mild septal hypertrophy.Methods:Forty-five HOCM patients with mild septal hypertrophy (the maximal left ventricular wall thickness is 15-19 mm) who were treated with PIMSRA between November 2016 to February 2021 in the Hypertrophic Cardiomyopathy Center of Xijing Hospital of Air Force Military Medical University were enrolled, and their clinical datas were collected and analyzed. The clinical symptoms and NYHA functional class before operation, 6 months and 1 year after operation were collected. Interventricular septum thickness, left ventricular outflow tract pressure gradient, left ventricular outflow tract diameter, mitral regurgitation, left ventricular systolic and diastolic function were evaluated by transthoracic echocardiography before operation, 6 months and 1 year after operation, intraoperative complications were monitored and recorded. Postoperative arrhythmias were monitored by routine 12 lead ECG and 24-hour ambulatory ECG.Results:All patients successfully completed PIMSRA procedure.No clinical adverse events such as death, bleeding and stroke occurred during and around the operation.No left bundle branch block, complete atrioventricular block and malignant arrhythmia occurred after the operation. All patients did not need permanent pacemaker implantation.NYHA functional class and clinical symptoms of patients were significantly improved after 6 months compared with values before operation (all P<0.001, respectively), it remained stable for 1 year after operation; Anterior interventricular septum, posterior interventricular septum, maximal left ventricular wall thickness all significantly decreased (all P<0.001, respectively), left ventricular outflow tract diameter widened ( P<0.001), continuous improvement 1 year after operation; left ventricular outflow tract gradient and provoked left ventricular outflow tract gradient all significantly decreased, mitral regurgitation decreased and SAM classification reduced after 6 months compared with values before operation (all P<0.001, respectively); left ventricular end-diastolic diameter widened and left atrial diameter decreased (all P<0.001, respectively), it remained stable for 1 year after operation. Left atrial volume index decreased ( P<0.001), with continuous improvement 1 year after operation; The ratio of early diastolic mitral valve velocity to early diastolic mitral annulus velocity (E/e′) decreased ( P=0.001), it remained stable for 1 year after operation. There were no significant differences in left ventricular end diastolic volume, left ventricular end systolic volume and left ventricular ejection fraction among the three groups (all P>0.05). Conclusions:PIMSRA is effective in the treatment of obstructive hypertrophic cardiomyopathy with mild ventricular septal hypertrophy.
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Objective:To detect the abnormal changes of myocardial blood perfusion in patients with hypertrophic cardiomyopathy(HCM) by myocardial contrast echocardiography (MCE) combined with adenosine stress test.Methods:Fifteen adult patients with HCM who were treated in Fuwai Central China Cardiovascular Hospital from May 2021 to March 2022 were prospectively selected as the HCM group, and eighteen healthy volunteers matched by gender, age and body surface area during the same period were chosen as the control group. All subjects underwent routine echocardiography, rest and adenosine stress MCE. The MCE images were analyzed by QLab software to obtain the myocardial perfusion parameters: peak signal intensity (A value), rising slope of the curve (β value) and A×β value, and the differences of above parameters between the two groups were compared.According to whether the end-diastolic wall thickness ≥12 mm, the myocardial segments in the HCM group were divided into hypertrophic segments and non-hypertrophic segments. The differences in myocardial perfusion parameters were compared among control group segments, hypertrophic segments and non-hypertrophic segments of the HCM group. The correlations of stress myocardial blood flow with maximal left ventricular wall thickness (MLVWT), left ventricular mass index (LVMI) and left atrial volume index (LAVI) in the HCM group were analyzed.Results:Compared with the control group, the A value, β value and A×β value of whole myocardium, hypertrophic segments and non-hypertrophic segments in the HCM group were significantly decreased in the rest and adenosine stress state, and the differences were statistically significant (all P<0.05). In the stress state, the A value, β value and A×β value of the hypertrophic segments were significantly lower than those in the non-hypertrophic segments in the HCM group, and the detection rate of abnormal perfusion segments in the HCM group was significantly higher than that in the rest state(all P<0.05). Compared with the control group, the myocardial blood flow reserve of whole myocardium, hypertrophic segments and non-hypertrophic segments in the HCM group were significantly decreased, and the differences were statistically significant(all P<0.05). The stress myocardial blood flow in the HCM group was negatively correlated with MLVWT, LVMI and LAVI ( r=-0.815, -0.805, -0.742; all P<0.05). Conclusions:Myocardial blood perfusion abnormalities can occur in both hypertrophic and non-hypertrophic myocardial segments in patients with HCM, and adenosine stress MCE can significantly improve the sensitivity of detecting myocardial perfusion abnormalities. The stress myocardial blood flow in patients with HCM is negatively correlated with MLVWT, LVMI and LAVI.
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OBJECTIVE@#Hypertrophic scars (HS) are a variety of skin tissue fibrosis disease that occurs in human skin, the effective therapeutic method of which is still inaccessible up to now. As a bioactive constituent of a well-known medical plant, Salvia miltiorrhiza (Danshen in Chinese), tanshinone IIA (TSA) is reported to inhibit cell proliferation in HS. Therefore, the aim of this study was to prepare TSA self-soluble microneedles to strengthen its dermal retention and break through the difficulty of significantly thickening epidermal connective tissue and stratum corneum at the HS site. The possible mechanism of action in suppressing HS was studied using human skin fibroblasts (HSF).@*METHODS@#Tanshinone IIA self-dissolving microneedles (TSA-MN) was prepared using a negative mold casting method. The prescription process of microneedle was optimized by Box-Behnken effect surface method. Different media were selected to investigate the ability of transdermal absorption and in vitro release. Furthermore, according to Cell Counting Kit-8 (CCK8) method as well as the Western blot method, the effect of TSA-MN on the biological characteristics of HSF was investigated.@*RESULTS@#With remarkable slow release effect and dermal retention, the release and transdermal properties of TSA-MN in vitro were better than both TSA and ordinary dosage forms. Its effect of HSF confirmed the essential decrease in cell motility during cell proliferation and cell migration in vitro, which plays a significant role in down-regulating the secretion of transforming growth factor-β1 (TGF-β1) in HSF and increasing the expression level of Smad7.@*CONCLUSION@#The prepared TSA self-soluble microneedles is helpful in solving the problem of hypertrophic scars, with a stable dermal retention effect after process optimization.
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Hypertrophic cardiomyopathy (HCM) is the most common monogenic inherited myocardial disease in children, and mutations in sarcomere genes (such as MYH7 and MYBPC3) are the most common genetic etiology of HCM, among which mutations in the MYH7 gene are the most common and account for 30%-50%. MYH7 gene mutations have the characteristics of being affected by environmental factors, coexisting with multiple genetic variations, and age-dependent penetrance, which leads to different or overlapping clinical phenotypes in children, including various cardiomyopathies and skeletal myopathies. At present, the pathogenesis, course, and prognosis of HCM caused by MYH7 gene mutations in children remain unclear. This article summarizes the possible pathogenesis, clinical phenotype, and treatment of HCM caused by MYH7 gene mutations, in order to facilitate the accurate prognostic evaluation and individualized management and treatment of the children with this disorder.