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Objectives: The study aimed to know the clinical, demographic, diagnostic, and treatments characteristics in patients with cardiomyopathies in Mexico. Methods: The Mexican Registry of Cardiomyopathies (REMEMI) is an observational, prospective and national study of patients with cardiomyopathies, which includes: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM) and arrhythmogenic cardiomyopathy of the right ventricle (ARVC). Results: A total of 1026 patients from most states of the Mexican Republic (19) were included, with 494 corresponding to DCM, 490 to HCM, 35 to RCM, and seven to ARVC. We found significant differences between the various cardiomyopathy phenotypes (p < 0.05) in the coexistence with diabetes, use of implantable defibrillator, presence of ventricular tachycardia, and NYHA functional class ≥ 1. There were no significant differences in age and predominant gender between each one. When analyzing by phenotype, we found that patients with HCM have limited use of diagnostic methods considered indispensable, such as cardiac magnetic resonance, Holter monitoring, and genetic testing in patients and their relatives. Conclusion: Seeking contemporary information through observational registries in Mexico is a valuable opportunity to understand the characteristics of the methods used in the study and treatment of diseases such as cardiomyopathies by Mexican physicians. It can provide information for the implementation of management guidelines and strategies to disseminate findings to improve healthcare in our country. Objetivo: Conocer las características clínicas y demográficas, así como las herramientas diagnósticas y tratamientos utilizados en pacientes con miocardiopatías en México. Métodos: El Registro Mexicano de Miocardiopatías (REMEMI) es un estudio observacional, prospectivo y nacional de pacientes con diagnóstico de miocardiopatía, que incluye: miocardiopatía dilatada (MCD), miocardiopatía hipertrófica (MCH), miocardiopatía restrictiva (MCR) y miocardiopatía arritmogénica del ventrículo derecho (MAVD). Resultados: Se incluyó un total de 1026 pacientes provenientes de la mayoría de los estados de la República Mexicana (19), de los cuales 494 corresponden a MCD, 490 a MCH, 35 a MCR y 7 a MAVD. Encontramos diferencias significativas entre los diversos fenotipos de miocardiopatías (p < 0.05) en la coexistencia con diabetes, empleo de desfibrilador implantable, presencia de taquicardia ventricular y la clase funcional de la NYHA ≥ 1. No hubo diferencias significativas en la edad y sexo predominante entre cada uno. Al analizar por fenotipo encontramos que la MCH tienen poco empleo de métodos diagnósticos considerados como indispensables como la resonancia magnética cardiaca, el monitoreo Holter y el estudio genético en los pacientes y sus familiares. Conclusión: La búsqueda de información contemporánea a través de registros observacionales en México es una buena oportunidad para conocer las características de los métodos empleados en el estudio y tratamiento de enfermedades como las miocardiopatías por médicos mexicanos, y puede ofrecernos información para la implementación de guías de manejo y estrategias de difusión de los hallazgos para así mejorar el cuidado de la salud en nuestro país. [ABSTRACT FROM AUTHOR]

The article "Mexican guidelines 2024 for the diagnosis and treatment of hypertrophic cardiomyopathy" presents recommendations developed by medical specialists in the field to assist in clinical decision-making about HCM. Evidence in Spanish and English was reviewed and recommendations were classified according to the strength of the evidence. Aspects such as diagnosis, follow-up, prognosis, and pharmacological and surgical treatment are addressed. The importance of a multidisciplinary and personalized approach to improve the prognosis of patients with HCM is highlighted. [Extracted from the article]

Copyright of Revista Argentina de Cardiología is the property of Sociedad Argentina de Cardiologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Complex I deficiency is the most common biochemical defect of the oxidative phosphorylation system, has been associated with pathogenic variants in the TMEM126B gene that codes for the TMEM126B assembly factor at the mitochondrial level and results in a diverse phenotypic presentation such as exercise intolerance, muscle weakness, hyperlactic acidemia, hypertrophic cardiomyopathy and renal tubular acidosis. Objective: To report new variants in the TMEM126B gene identified in a pediatric male patient with complex I deficiency. Materials and Methods: An 11-month-old male patient with a history of congenital hypotonia. He underwent whole exome sequencing + CNV by NGS; the Mutation Taster, UMD-Predictor, POLYPHEN, SIFT, DANN, Human Splicing Finder and Varsome. Finally, a gene interaction network was constructed by the GeneMania program to identify close gene associations. Results: Variants c.222_223del (p.Gln74HisfsTer26) and c.509+61del (p?) were identified in the TMEM126B gene. These variants are not reported in population databases and are not described in the world literature. From the analysis in bioinformatics software, it was concluded that they have probably pathogenic and uncertain significance, respectively. The interaction network showed that TMEM126B is directly related to the TMEM126, DYNC12 and NDUFAF1 gene family. Conclusion: The report of new variants in the TMEM126B gene by using genomic-bioinformatics techniques allows us to broaden the spectrum of genetic variants, especially intronic ones, to contribute to the targeted diagnosis of patients with mitochondrial diseases and to provide individualized care and to make an approach to precision medicine. [ABSTRACT FROM AUTHOR]

The article discusses the presence of left ventricular hypertrophy (LVH) not explained by loading conditions, which can be caused by hypertrophic cardiomyopathy (HCM) or other diseases. Phenocopies of HCM caused by metabolic, neuromuscular, mitochondrial, amyloidosis, Fabry disease, and Danon disease are mentioned. The importance of considering mitochondrial diseases as an underlying cause of LVH, especially in young patients with neurological symptoms, is highlighted. The case of a patient with LVH and a family history of mitochondrial diabetes and neurosensory deafness, who was diagnosed with MELAS syndrome through genetic testing, is described. [Extracted from the article]

Introducción: Transthyretin-mediated hereditary amyloidosis is an autosomal dominant disease with progressive systemic involvement that affects the function of multiple organs and is associated with high morbidity and mortality. Patients present neurological, cardiac, autonomic, ophthalmological and renal involvement, among others, related to the patient’s genotype. These alterations affect quality of life and are directly related to early mortality. Peripheral neuropathy is an early marker of the disease. Its identification allows early treatment with disease-modifying therapies aimed at stabilizing disease progression, which, along with adequate follow-up, has a positive impact on patients’ quality of life and prolongs life expectancy. Objective: To structure a series of recommendations appropriate to the local setting on treatment and follow-up in patients with hereditary transthyretin-mediated amyloidosis. Materials and methods: Delphi methodology was used, and a cut-off point of 75% favorability was established. Results and conclusions: A series of recommendations were presented based on the available evidence and international recommendations, applicable to the local setting, on diagnostic methods that facilitate early detection of the affected patient and the parameters for initiation of treatment and follow-up that improve the quality of life, decrease complications, and increase the life expectancy of these patients. [ABSTRACT FROM AUTHOR]

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 di-sease. 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 anesthe-sia. 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 the-rapy (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 re-moval 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. [ABSTRACT FROM AUTHOR]

Copyright of Revista Argentina de Cardiología is the property of Sociedad Argentina de Cardiologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Acta Medica Colombiana is the property of Acta Medica Colombiana and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Enfermería en Cardiologia is the property of Asociacion Espanola de Enfermeria en Cardiologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Compendium of Veterinary Sciences / Compendio de Ciencias Veterinarias is the property of Facultad de Ciencias Veterinarias de la Universidad Nacional de Asuncion and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Hypertrophic cardiomyopathy is characterized by left ventricular hypertrophy without apparent cardiac justification. Sudden cardiac death may be the first manifestation of the disease. It occurs mainly in adulthood and can be seen in childhood and adolescence where genetic origin predominates. Primary HCM ("familial") is inherited in an autosomal dominant pattern in the 25 subtypes informed in Online Mendelian Inheritance in Man. The proteins encoded by the mutated genes are part of the sarcomere in the cardiac cells, being the thick filament the most frequently affected, with the worst prognosis. In the present article, we describe the Mendelian inheritance of the disease and the two most associated genes with sudden death: MYBPC3 and MYH7. [ABSTRACT FROM AUTHOR]

Copyright of Revista Argentina de Cardiología is the property of Sociedad Argentina de Cardiologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Médica Clínica Las Condes is the property of Editorial Sanchez y Barcelo and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Sigmoid septum and hypertrophic cardiomyopathy presenting with left ventricular hypertrophy and, although they appear to be different entities, often involve problems in the differential diagnosis. This study was carried out to assess the prevalence and characteristics of the echocardiographic sigmoid septum and its differential findings regarding hypertrophic cardiomyopathy. Methods: Descriptive, observational and prospective study. A total of 1,770 patients were studied by echocardiography. Sigmoid septum (focal and isolated hypertrophy of the basal interventricular septum ≥ 13 mm in men and ≥ 12 mm in women, exceeding ≥ 50% of the median septum thickness) was classified as «Type 1» (≤ 14 mm) and «Type 2» (≥ 15 mm). Results: There were 59 cases of sigmoid septum (prevalence of 3.3%): 26 (1.5%) patients with type 1 (50% male) and 33 (1.9%) patients with type 2 (72.7% male), there were 25 (1.4%) cases of hypertrophic cardiomyopathy (76% male). The group with type 2 sigmoid septum differed from hypertrophic cardiomyopathy in: was older (73 ± 10.5 years, P < .0001), with more hypertension (84.8%, P < .0001), lower glomerular filtering (73.3 ± 21.4 ml/min, P = .007), lower repolarization abnormalities (18.2%, P = .004) and Cornell index (in men, 22.2 ± 11 mm, P = .041), more diastolic dysfunction (75%, P = .0089) and in ventricular morphology and fibrosis location in magnetic resonance. Conclusion: Regarding the hypertrophic cardiomyopathy, patients with type 2 sigmoid septum are older and generally hypertensive, otherwise, often they have no clear differences in their clinical, electrocardiographic or echocardiographic characteristics. Therefore, cardiac resonance is helpful in the differential diagnosis. [ABSTRACT FROM AUTHOR]

Hypertrophic cardiomyopathy is a genetic disease characterized by cardiovascular left ventricular hypertrophy associated with ventricular chambers without dilatation, he is associated with myocardial infarction, atrial fibrillation and stroke. In some isolated cases related to mitral regurgitation secondary to chordal rupture in obstructive hypertrophic cardiomyopathy. [ABSTRACT FROM AUTHOR]

The purpose of this paper is to introduce a new idea: local inhibition of contractility without necrosis. It's potential usefulness in hypertrophic cardiomyopathy treatment is discussed and 2 pharmacological models, administrating botulinum toxin and wortmannin directly in the myocardium are disclosed. [ABSTRACT FROM AUTHOR]

Introduction: In this era of relevant technological advances, the imaging methods for the study of cardiovascular diseases are in constant progress, so it is necessary to know the advantages and disadvantages of the different methods. The Hyperthrophic cardiomyopathy (HCM) is an entity that mainly affects the myocardium, with a high mortality due to the alteration in the microvascularity, the generation of fibrosis and the association of the latter with the presence of arrhythmias. The Cardiovascular Magnetic Resonance (CMR) emerges as a diagnostic tool that in this disease specially makes a contribution beyond morphology and the cardiac function (that by itself it is of utmost importance) but also it allows identifying the presence or not of thrombuses correlated at the aneurismatic regions, the presence or not of ischemia and particularly is able to characterize myocardial tissue and to demonstrate if there is fibrosis or not, what makes possible to go throughout beyond the diagnosis and treatment, since it shows most more obvious and close idea of disease prediction Presentation of the case: 68 years old-Female patient, with a history of high blood pressure in treatment with telmisartan, prazocin and metoprolol, she attended for consultation due to the presence of medium breathlessness levels dyspnea and occasional palpitations. Discussion: Most of the patients with HCM tend to develop dynamic obstruction of the left-ventricle outer tract so much at rest as in situations provoked by the anterior systolic movement and the contact with inter-ventricular septum. [ABSTRACT FROM AUTHOR]