Prognostic impact of the findings of the genetic test in left dominant arrhythmogenic cardiomyopathy.

Background: The diagnosis of left dominant arrhythmogenic cardiomyopathy (LDAC) is sometimes complex. The Padua group recently published a document with criteria to identify patients with LDAC, requiring a compatible genetic variant for diagnosis. Due to the gaps in the knowledge of the role of genetics in its pathogenesis, our objective is to describe the findings of the genetic test in patients with LDAC in our center and its prognostic impact. Methods: Single-center prospective cohort study, in which we recruited 77 patients diagnosed with LDAC or biventricular arrhythmogenic cardiomyopathy according to the criteria of Sen-Chowdhry et al. Results: We obtained a positive result in the genetic test in 53.2 %. The desmoplakin gene was the most affected (16.9 %). The mean value of left ventricular (LV) ejection fraction was 45.6 ± 13.1 %, with no significant differences in the severity of the dysfunction according to genetics (p = 0.187). Among the patients with positive genetics there was a greater number of segments in the LV affected by fibrosis (p = 0.043). Regarding fatty infiltration in the LV and number of affected segments, there were no significant differences between groups (p = 0.144). MACE was recorded in 23 patients (29.9 %). The positive result in the genetic test was not significantly associated with the occurrence of MACE (p = 0.902). Conclusion: In our study, we did not find mutations responsible for the disease in practically half of the cases. Despite the existence of a high proportion of MACE during follow-up, there were no prognostic differences according to the result of the genetic test.

Arrhythmogenic Cardiomyopathy and Athletes: A Dangerous Relationship.

Arrhythmogenic cardiomyopathy (ACM) is a disease characterized by a progressive replacement of myocardium by fibro-adipose material, predisposing to ventricular arrhythmias (VA) and sudden cardiac death (SCD). Its prevalence is estimated at 1:2000 to 1:5000, with a higher incidence in males, and clinical onset is usually between the 2nd and 4th decade of life. The prevalence of ACM in SCD victims is relatively high, making it one of the most common etiologies in young patients with SCD, especially if they are athletes. Cardiac events occur more frequently in individuals with ACM who participate in competitive sports and/or high-intensity training. In effect, exercise activity can worsen RV function in cases of hereditary ACM. Estimating the incidence of SCD caused by ACM in athletes remains challenging, being reported frequency ranging from 3% to 20%. Here, we review the potential implications of exercising on the clinical course of the classical genetic form of ACM, as well as the diagnostic tools, risk stratification, and the different therapeutic tools available for managing ACM.

A case of recurring myocarditis: Magnetic resonance, key to diagnosis.

Arrhythmogenic cardiomyopathy is a hereditary disease characterized by the replacement of the myocardium by fibrofatty tissue. In recent years, three patterns have been described: the classic right variant, the biventricular variant, and the variant with predominant involvement of the left ventricle. Nowadays, cardiac magnetic resonance is a fundamental tool for diagnosis of arrhythmogenic left ventricular cardiomyopathy. Late gadolinium enhancement is a very sensitive indicator of early left-sided involvement, and is included as a marker in the current arrhythmogenic cardiomyopathy criteria. We report a case of arrhythmogenic left ventricular cardiomyopathy with atypical form of presentation as recurrent myocarditis. Clinical suspicion was important for the diagnosis, as the patient did not present data that would point to an infectious origin of the disease. However, the key to diagnosis was detecting a characteristic imaging pattern on cardiac magnetic resonance. Initially, a meso-subepicardial fibrosis located in lateral wall was observed, which progressively spread to other regions until it became practically global. In addition, irregularities were observed in the epicardial contour that were suggestive of fatty infiltration, all consistent with the diagnosis of arrhythmogenic left ventricular cardiomyopathy. Learning objective: Arrhythmogenic left ventricular cardiomyopathy has recently been recognized as part of the arrhythmogenic cardiomyopathy spectrum. Given the difficulties in its diagnosis, it is essential to have a high index of suspicion. We must pay attention to the clinical context and the cardiac magnetic resonance imaging findings, which has become an essential imaging tool for diagnosis.

Estudio volumétrico por resonancia magnética de la fosa posterior y sus componentes en la neuralgia del trigémino idiopática / Volumetric measurement of the posterior fossa and its components using magnetic resonance imaging in idiopathic trigeminal neuralgia

Introducción. El conflicto neurovascular se considera hoy día un dogma indiscutible en la fisiopatología de la neuralgia del trigémino idiopática (NTI). Sin embargo, son cada vez más los trabajos que aportan información acerca de otros factores que favorecen dicho conflicto o la neuralgia por sí misma. Objetivos. Medir el volumen de los espacios y subestructuras de la fosa posterior en pacientes con NTI y controles e investigar la asociación entre un espacio reducido de dichas estructuras y la incidencia de NTI. Sujetos y métodos. Se realizan resonancias magnéticas de alta resolución (1,5 T) a 20 pacientes diagnosticados de NTI y a 20 controles sanos y se obtienen secuencias coronales y axiales (1 mm de espesor) potenciadas en T2 para realizar un estudio volumétrico de las cisternas pontomesencefálicas, el cavum de Meckel y el tronco principal del nervio trigémino. Resultados. Considerando la mitad de la cisterna pontomesencefálica a cada lado de la línea media, el volumen de la hemicisterna del lado afectado era significativamente menor que el del lado sano en pacientes con NTI (p = 0,004) y también al compararla con las hemicisternas de los controles. No se encontraron diferencias significativas con el cavum de Meckel ni con el propio nervio trigémino. Se buscó también la presencia de conflicto neurovascular y en un 10% de los pacientes no se identificó dicho fenómeno en el lado afectado. Conclusiones. Los datos obtenidos en nuestro trabajo apoyan la teoría de que un espacio reducido de las cisternas de la fosa posterior que contienen el nervio trigémino podría favorecer la incidencia de NT (AU)

Introduction. The neurovascular conflict is now considered an unquestionable dogma in the pathophysiology of idiopathic trigeminal neuralgia (ITN). However, there are more and more papers that provide information about other factors that promote such conflict or neuralgia itself. Aims. To measure the volume of the substructures of the posterior fossa in patients with ITN and controls and to investigate the association between a reduced volume of these structures and the incidence of ITN. Subjects and methods. In 20 patients with unilateral ITN and 20 healthy participants, high resolution 1.5 T magnetic resonance imaging scans including axial and coronal sequences T2-weighted with a slice thickness of 1 mm were performed with the aim of a volumetric study of pontomesencephalic cistern, Meckel’s cave and trigeminal nerve. Results. Measuring the pontomesencephalic cistern on each side of the midline, the volume of the affected side cistern was significantly lower than the healthy side one in patients with ITN (p = 0.004) and also when compared with controls hemicisterns. No significant differences in the Meckel’s cave nor the trigeminal nerve were found. The incidence of neurovascular conflict was also studied resulting in 10% of patients with ITN where the conflict was not identified. Conclusions. Our data support the theory that a small volume of the posterior fossa cisterns containing the trigeminal nerve may increase the incidence of ITN (AU)

[Volumetric measurement of the posterior fossa and its components using magnetic resonance imaging in idiopathic trigeminal neuralgia]. / Estudio volumetrico por resonancia magnetica de la fosa posterior y sus componentes en la neuralgia del trigemino idiopatica.

INTRODUCTION: The neurovascular conflict is now considered an unquestionable dogma in the pathophysiology of idiopathic trigeminal neuralgia (ITN). However, there are more and more papers that provide information about other factors that promote such conflict or neuralgia itself. AIMS. To measure the volume of the substructures of the posterior fossa in patients with ITN and controls and to investigate the association between a reduced volume of these structures and the incidence of ITN. SUBJECTS AND METHODS: In 20 patients with unilateral ITN and 20 healthy participants, high resolution 1.5 T magnetic resonance imaging scans including axial and coronal sequences T2-weighted with a slice thickness of 1 mm were performed with the aim of a volumetric study of pontomesencephalic cistern, Meckel's cave and trigeminal nerve. RESULTS: Measuring the pontomesencephalic cistern on each side of the midline, the volume of the affected side cistern was significantly lower than the healthy side one in patients with ITN (p = 0.004) and also when compared with controls hemicisterns. No significant differences in the Meckel's cave nor the trigeminal nerve were found. The incidence of neurovascular conflict was also studied resulting in 10% of patients with ITN where the conflict was not identified. CONCLUSIONS: Our data support the theory that a small volume of the posterior fossa cisterns containing the trigeminal nerve may increase the incidence of ITN.