277 THE OLDEST CLINICAL SIGN IN ONE OF THE MOST RECENTLY DISCOVERED SYNDROMES: A CASE REPORT ON DIGITAL CLUBBING AND BRUGADA SYNDROME IN A YOUNG MALE
Authors: Crispino Simone Pasquale , Piccirillo Francesco , Segreti Andrea , Cocchia Francesca , Martucciello Arianna , Piscione Mariagrazia , Grigioni Francesco 
Published: December 2022

Abstract
A 21-year-old male arrived by ambulance in the Emergency Department following a syncopal episode with head trauma to the ground. The patient denied similar episodes in the past. He only reported a history of myoclonus and tics in childhood, limited to involuntary eye movements, treated in the past with valproic acid. In the last period, he was not taking any drugs at home. Physical examination revealed no heart, lung, or abdominal alterations, but the presence of bilateral hand fingers clubbing. The electrocardiogram showed: sinus tachycardia (107 bpm), normal atrioventricular conduction, incomplete right bundle branch block, and ST-T segment elevation in the right precordial derivations. Routine blood samples showed mild neutrophilic leukocytosis, while the high sensitivity troponin was normal. Neurological examination revealed repetitive, stereotyped ocular movements indicative of tics without other alterations responsible for the syncopal episode. Subsequently, the patient underwent a brain CT scan with a contrast medium, which excluded acute brain hemorrhages. Therefore, a cardiological consultation was requested. The trans-thoracic echocardiogram showed regular chamber dimensions and preserved biventricular functions. Also, no valve alterations or pericardial effusion were present. Considering EKG alterations and no neurological disease explaining the actual clinical picture, the cardiologists decided to hospitalize the patient to the Cardiology ward for further assessments. Because of digital clubbing, a chest-X ray and global spirometry were performed to exclude a respiratory disease but resulted in the normal range. In addition, in the suspicion of Brugada syndrome, the patient underwent a test with the infusion of Ajmaline, a sodium-channel blocking, class-1A antiarrhythmic agent. The drug was infused into a vein in about 5 minutes, observing the EKG trace constantly up to 10 minutes after administration to highlight possible changes. Within a few minutes, a type-1 Brugada syndrome pattern appeared, characterized by the morphological alterations of the QRS in V1-V2, with an elevation of the J point and an ST-segment elevation with a negative T wave. According to the ESC Guidelines, in consideration of the syncopal episode and the type-1 induced Brugada pattern, the implantation of a subcutaneous implantable defibrillator for the primary prevention of arrhythmias was performed. Lastly, a genetic evaluation was performed before hospital discharge, to identify which genetic alteration was responsible for Brugada syndrome and obtain more information regarding the possible link with digital clubbing, still not available. In the patient described in the present case report, no cause of classical disease associated with digital clubbing was present. To the best of our knowledge, the present is the first case report describing the association between digital clubbing and Brugada syndrome. It is possible that signaling pathways, such as PDGF, VEGF and HPGD, often involved in the release of fibrogenic and growth cytokines in the pathogenesis of digital clubbing may be also present in Brugada syndrome. However, further observations are needed to understand better the possible association between these two conditions. In particular, it should be clarified if patients with digital clubbing need a proper screening for Brugada Syndrome and if the presence of digital clubbing in a patient with a diagnosis of Brugada syndrome represents a marker of a more severe disease.