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.
View Article and Find Full Text PDFArrhythmogenic 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.
View Article and Find Full Text PDFFabry disease is a rare X-linked inherited lysosomal storage disorder caused by the absence or reduction of alfa-galactosidase A activity in lysosomes, resulting in accumulation of glycosphingolipids in various tissues. The main organ affected is the heart, which frequently manifests as left ventricular hypertrophy and can ultimately lead to cardiac fibrosis, heart failure, valve disease, cardiac conduction abnormalities and sudden cardiac death. Today we know that myocyte damage starts before these signs and symptoms are detectable on routine studies, during the designated pre-clinical phase of Fabry disease.
View Article and Find Full Text PDFHeartRhythm Case Rep
July 2021
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.
View Article and Find Full Text PDFStrategies Trauma Limb Reconstr
December 2008
We describe the case of a 13-year-old patient with a left wrist physeal fracture of the ulna and radius. X-Ray showed a Salter-Harris type II injury of the radius, and CT and MRI identified the following: type II epiphysiolysis of the radius with a metaphyseal wedge and type IV fracture of the ulna, with interposition in the focus of the fracture of the extensor carpi ulnaris tendon, as well as a tear in the central area of the triangular fibrocartilage complex. All these injuries were checked intraoperatively during open reduction.
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