Associations of MYPN, TTN, SCN5A, MYO6 and ELN Mutations With Arrhythmias and Subsequent Sudden Cardiac Death: A Case Report of an Ecuadorian Individual.

Cardiac pathologies are among the most frequent causes of death worldwide. Regarding cardiovascular deaths, it is estimated that 5 million cases are caused by sudden cardiac death (SCD) annually. The primary cause of SCD is ventricular arrhythmias. Genomic studies have provided pathogenic, likely pathogenic, and variants of uncertain significance that may predispose individuals to cardiac causes of sudden death. In this study, we describe the case of a 43-year-old individual who experienced an episode of aborted SCD. An implantable cardioverter defibrillator was placed to prevent further SCD episodes. The diagnosis was ventricular fibrillation. Genomic analysis revealed some variants in the MYPN (pathogenic), GCKR (likely pathogenic), TTN (variant of uncertain significance), SCN5A (variant of uncertain significance), MYO6 (variant of uncertain significance), and ELN (variant of uncertain significance) genes, which could be associated with SCD episodes. In addition, a protein-protein interaction network was obtained, with proteins related to ventricular arrhythmia and the biological processes involved. Therefore, this study identified genetic variants that may be associated with and trigger SCD in the individual. Moreover, genetic variants of uncertain significance, which have not been reported, could contribute to the genetic basis of the disease.

Identification of mutations on the EMD and EYA4 genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report.

Introduction: Hearing loss is the most common sensory disability, and it is estimated that 50% of cases are caused by genetic factors. One of the genes associated with deafness is the eyes absent homolog 4 (EYA4) gene, a transcription factor related to the development and function of the inner ear. Emery-Dreifuss muscular dystrophy is a rare inherited disease characterized by atrophy and weakness of the humeroperoneal muscles, multi-joint contractures, and cardiac manifestations. It is inherited in an autosomal-dominant, X-linked, or less frequently autosomal recessive manner; one of the genes associated with EDMD is the emerin (EMD) gene. Case description: A total of two Ecuadorian siblings aged 57 (Subject A) and 55 (Subject B) were diagnosed with deafness and an unspecified type of muscular dystrophy based on family history and clinical findings. Next-generation sequencing (NGS) using the TruSight Cardio and Inherited Disease kits at the Centro de Investigación Genética y Genómica CIGG, Universidad UTE, was performed. The genetic analyses showed two mutations: a stop mutation in exon 11/20 (NM_004100.4:c.940G>T) of the EYA4 gene and a missense mutation in exon 6 (NM_000117.2:c.548C>G) of the EMD gene. Discussion and conclusion: The in silico predictions described the EYA4 variant as likely pathogenic and the EMD variant as a variant of uncertain significance (VUS). Moreover, an ancestry analysis was performed using 46 Ancestry Informative Insertion/Deletion Markers (AIM-InDels), and the ancestral composition of subject A was 46% African, 26.1% European, and 27.9% American Indian ancestry, whereas the ancestral composition of subject B was 41.3% African, 38.2% European, and 20.5% American Indian ancestry. The present case report describes two Ecuadorian siblings with a mainly African ancestral component, muscular dystrophy, and deafness phenotypes. Moreover, using next-generation sequencing (NGS), a mutation in the EMD and a novel mutation in EYA4 genes possibly associated with the subjects' phenotype were identified and discussed.

Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report.

Introduction: Cardiac laminopathies are caused by mutations in the LMNA gene and include a wide range of clinical manifestations involving electrical and mechanical changes in cardiomyocytes. In Ecuador, cardiovascular diseases were the primary cause of death in 2019, accounting for 26.5% of total deaths. Cardiac laminopathy-associated mutations involve genes coding for structural proteins with functions related to heart development and physiology. Family description: Two Ecuadorian siblings, self-identified as mestizos, were diagnosed with cardiac laminopathies and suffered embolic strokes. Moreover, by performing Next-Generation Sequencing, a pathogenic variant (NM_170707.3:c.1526del) was found in the gene LMNA. Discussion and conclusion: Currently, genetic tests are an essential step for disease genetic counseling, including cardiovascular disease diagnosis. Identification of a genetic cause that may explain the risk of cardiac laminopathies in a family can help the post-test counseling and recommendations from the cardiologist. In the present report, a pathogenic variant ((NM_170707.3:c.1526del) has been identified in two Ecuadorian siblings with cardiac laminopathies. The LMNA gene codes for A-type laminar proteins that are associated with gene transcription regulation. Mutations in the LMNA gene cause laminopathies, disorders with diverse phenotypic manifestations. Moreover, understanding the molecular biology of the disease-causing mutations is essential in deciding the correct type of treatment.

Estimulación cardíaca temporal de larga duración con cable activo y marcapaso permanente externo / Long-term temporary cardiac pacing with active lead and external permanent pacemaker

INTRODUCCIÓN. La estimulación cardíaca temporal de larga duración con cable activo y marcapaso permanente externo es una técnica recientemente incluida en las guías de manejo de bradicardias sintomáticas. CASOS CLÍNICOS. Se describen 4 casos de pacientes sometidos a estimulación cardíaca temporal de larga duración con cable activo y marcapaso permanente externo de la unidad de Hemodinámica del Hospital de Especialidades Carlos Andrade Marín, con indicaciones diversas. DISCUSIÓN. El tiempo medio de permanencia con el cable activo y el marcapaso externalizado fue 23 días. No hubo complicaciones del procedimiento. Un paciente falleció por causas no relacionadas con la estimulación y 2 se recuperaron en sus domicilios. CONCLUSIÓN. La técnica de estimulación temporal utilizando marcapasos permanentes recuperados se muestra extremadamente útil para mantener un marcapaso cardíaco seguro, incluso ambulatorio y por largo tiempo, hasta el implante de dispositivos definitivos. Su limitación es la factibilidad de hacerlo solo en centros de tercer nivel.

INTRODUCTION. Long-duration temporary cardiac pacing with active lead and permanent external pacemaker is a technique recently included in the guidelines for the management of symptomatic bradycardias. CLINICAL CASES. We describe 4 cases of patients who underwent long-duration temporary cardiac pacing with active lead and external permanent pacemaker at the Hemodynamics Unit of the Hospital de Especialidades Carlos Andrade Marín, with different indications. DISCUSSION. The mean length of stay with the active lead and externalized pacemaker was 23 days. There were no procedural complications. One patient died of causes unrelated to pacing and 2 recovered at home. CONCLUSIONS. The technique of temporary pacing using retrieved permanent pacemakers is extremely useful for maintaining safe cardiac pacing, even on an outpatient basis and for a long period of time, until implantation of definitive devices. Its limitation is the feasibility of doing it only in third level centers.

Caracterización epidemiológica y análisis de supervivencia de los adultos mayores ingresados en el área de cuidados intensivos del Hospital Carlos Andrade Marín durante los años 2011 y 2012 / Epidemiologic characterization and survival analysis of elderly people checked in the Carlos Andrade Marin Hospital intensive care unit during 2011 and 2012

Introducción: el objetivo de este estudio es conocer las características epidemiológicas y el análisis de supervivencia de los pacientes adultos mayores del área de Cuidados Intensivos del Hospital Carlos Andrade Marín, durante los años 2011 y 2012. Materiales y métodos: estudio observacional de cohorte, ambispectivo para determinar las características epidemiológicas así como la supervivencia de los pacientes de 65 años o más egresados de Cuidados Intensivos durante los años 2011 y 2012. El análisis estadístico se realizó con el programa estadístico SPSS versión 20. Resultados: se recopilaron los datos de 2.205 pacientes, los adultos mayores fueron 937, el 42% del total, con promedio de edad 77 años, el 60% de sexo masculino, la mortalidad global fue del 32% y atribuible del 15%, con 6 días de promedio de estancia en Cuidados Intensivos, 631 pacientes egresaron vivos, con seguimiento máximo de 846 días y en promedio 270 días, con una supervivencia de este grupo de 76,40%. Conclusiones: los días de estancia en Cuidados Intensivos, la mortalidad global y la atribuible fueron mayores en los adultos mayores. Los pacientes con: Hemorragia subaracnoidea, Glasgow de 8 o menor, Neumonía intrahospitalaria, Tromboembolia pulmonar, Cáncer, Insuficiencia hepática, Enfermedad pulmonar obstructiva crónica, Trauma cráneo encefálico y Choque séptico, sobrevivieron menos.

Introduction: the objective of this study is to know the epidemiology and survival analysis of senior citizens in the Intensive Care Unit of the Carlos Andrade Marin Hospital, during the years of 2011 and 2012. Materials and methods: observational study, to determine the epidemiological characteristics and patients survival of 65 years or more after discharge from the intensive care during the years 2011 and 2012. Statistical analysis was performed using SPSS version 20. Results: data was collected from 2205 patients, 937 were seniors, 42% of the total, average age 77 years, 60% male, overall mortality was 32% and 15% attributable, in 6 days average stay in the ICU, 631 patients discharged alive, with maximum follow-up of 846 days and an average of 270 days, with a survival of this group of 76.40%. Conclusions: the length of stay in intensive care and overall mortality attributable were higher in older adults. Patients with: Subarachnoid hemorrhage, Glasgow 8 or lower, Intra-hospital pneumonia, Pulmonary embolism, Cancer, Liver failure, Chronic obstructive pulmonary disease, Traumatic brain injury and Septic shock, survived less.

Índice cardíaco medido por catéter de Swan-Ganz comparado con el ecocardiograma transtorácico / Cardiac index measured by Swan-Ganz catheter compared to transthoracic echocardiogram

Introducción: el catéter de Swan-Ganz sigue siendo el estándar de oro para la valoración hemodinámica. Las técnicas más nuevas ofrecen alternativas menos invasivas. El objetivo de este estudio es comparar el cálculo del índice cardíaco mediante ecocardiograma transtorácico frente a la medición del mismo con el catéter de Swan-Ganz. Materiales y métodos: estudio prospectivo, observacional y comparativo, de pacientes mayores de 18 años, ingresados al área de Cuidados Intensivos del Hospital Carlos Andrade Marín, durante un año. Se incluyeron pacientes mayores de 18 años en shock con monitoreo hemodinámico utilizando catéter de Swan- Ganz y que contaban con ventanas ecocardiográficas adecuadas; en total 13 pacientes en ese período de tiempo. Criterios de exclusión: pacientes sin ventanas ecocardiográficas adecuadas o monitoreo sin catéter de Swan-Ganz. El análisis de comparación de los promedios se realizó mediante la prueba de la t de Student y para la correlación entre las técnicas se utilizó el coeficiente de Pearson. Resultados: fueron 13 pacientes, con promedio de edad de 57 años, siendo el diagnóstico principal sepsis. La comparación de los promedios de los valores aplicando la prueba de la t de Student, se obtuvo un valor de 0,220 p = 0,829. El índice de correlación de Pearson entre las dos técnicas fue de 0,94 p < 0,001. Conclusiones: el índice cardíaco estimado por ecocardiografía se correlacionó fuertemente con la medición del índice cardíaco mediante el catéter de Swan-Ganz; las diferencias entre los promedios de las dos mediciones no se mostraron diferentes estadísticamente.

Introduction: the Swan Ganz catheter remains the gold standard for hemodynamic evaluation. Newer techniques offer less invasive alternatives. The objective of this study is to compare the calculated cardiac index versus echocardiogram by measuring the same with the Swan Ganz catheter. Materials and methods: prospective, observational and comparative study of patients over 18 years old admitted to the Intensive Care Unit of the Carlos Andrade Marin Hospital, for one year. Patients older than 18 were included in shock with hemodynamic monitoring using Swan Ganz catheter and had adequate echocardiographic windows, a total of 13 patients at that time. Exclusion criteria: patients without proper monitoring without echocardiographic windows or Swan Ganz catheter. The comparison analysis of the means was performed by Student t test, and for correlation between techniques, the Pearson coeffcient was used. Results: there were 13 patients with a mean age of 57, the main diagnosis was sepsis. Comparison of the averages of the test values using the Student t value 0.220 P = 0.829 was obtained. The Pearson correlation index between the two techniques was 0.94 p <0.001. Conclusions: echocardiography estimated cardiac index was strongly correlated with cardiac index measurement by Swan Ganz catheter, the differences between the averages of the two measurements did not show statistical difference.