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Your search keyword '"L, Jiménez Montañés"' showing total 2 results
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2 results on '"L, Jiménez Montañés"'

1. Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?

Author

Fogaça-da-Mata M, Martínez-Barrios E, Jiménez-Montañés L, Cruzalegui J, Chipa-Ccasani F, Greco A, Cesar S, Díez-Escuté N, Cerralbo P, Zschaeck I, Clavero Adell M, Ayerza-Casas A, Palanca-Arias D, López M, Campuzano O, Brugada J, and Sarquella-Brugada G

Subjects
Humans, Male, Child, Preschool, Heart Defects, Congenital genetics, Heart Defects, Congenital pathology, Ventricular Septum pathology, Pulmonary Atresia genetics, Pulmonary Atresia pathology, Brugada Syndrome genetics, Brugada Syndrome pathology, NAV1.5 Voltage-Gated Sodium Channel genetics
Abstract

Brugada syndrome is a rare arrhythmogenic syndrome associated mainly with pathogenic variants in the SCN5A gene. Right ventricle outflow tract fibrosis has been reported in some cases of patients diagnosed with Brugada syndrome. Pulmonary atresia with an intact ventricular septum is characterized by the lack of a functional pulmonary valve, due to the underdevelopment of the right ventricle outflow tract. We report, for the first time, a 4-year-old boy with pulmonary atresia with an intact ventricular septum who harbored a pathogenic de novo variant in SCN5A , and the ajmaline test unmasked a type-1 Brugada pattern. We suggest that deleterious variants in the SCN5A gene could be implicated in pulmonary atresia with an intact ventricular septum embryogenesis, leading to overlapping phenotypes.

Published
2024
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2. Early assessment of cardiomyopathy in Duchenne patients by means of longitudinal strain echocardiography.

Author

Clavero-Adell M, Ayerza-Casas A, Palanca-Arias D, López-Ramón M, Jiménez-Montañés L, and Olmos S

Subjects
Humans, Male, Ventricular Function, Left, Cross-Sectional Studies, Stroke Volume, Case-Control Studies, Prospective Studies, Bayes Theorem, Echocardiography, Muscular Dystrophy, Duchenne complications, Muscular Dystrophy, Duchenne diagnosis, Ventricular Dysfunction, Left diagnostic imaging, Ventricular Dysfunction, Left etiology, Cardiomyopathies diagnostic imaging, Cardiomyopathies etiology
Abstract

Introduction: The diagnosis of Duchenne-linked cardiomyopathy may be challenging. Conventional echocardiographic measurements typically show deterioration beyond the second decade. Global longitudinal strain has been proposed as an earlier marker than left ventricular ejection fraction., Material and Methods: A prospective, observational, cross-sectional, case-control study was carried out. Both Duchenne patients and control subjects underwent transthoracic echocardiogram in order to assess left ventricle function. Bayesian linear regression was the main tool for inference. Age effects were parameterised by means of a spline function because of its simplicity to characterise continuous variables and smooth contributions. The posterior distribution of the marginal age effects was used to assess the earliest age of deterioration of each marker., Results: Sixteen Duchenne patients and twenty-two healthy male subjects were enrolled. On overage, cardiac function measures were found for ejection fraction and longitudinal strain among different groups. Age effects on global longitudinal strain are more reliably found at ages of 6 and above, while ejection fraction starts to deteriorate at an older age. Progressive left ventricular dysfunction in Duchenne patients is one of the key issues and starts at an early age with subtle symptoms., Conclusion: This cross-sectional study provides supporting evidence that global longitudinal strain is an earlier marker of disease progression than ejection fraction in Duchenne patients.

Published
2024
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