The aim of this review is to identify possible structural abnormalities of BrS and their potential association with symptoms, risk stratification, and prognosis. (1) Background: BrS has always been considered a purely electrical disease and imaging techniques do not currently play a specific role in the diagnosis of this arrhythmic syndrome. Some authors have recently hypothesized the presence of structural and functional abnormalities. Therefore, several studies investigated the presence of pathological features in echocardiography and cardiac magnetic resonance imaging (MRI) in patients with BrS, but results were controversial. (2) Methods: We performed a systematic review of the literature on the spectrum of features detected by echocardiography and cardiac MRI. Articles were searched in Pubmed, Cochrane Library, and Biomed Central. Only papers published in English and in peer-reviewed journals up to November 2021 were selected. After an initial evaluation, 596 records were screened; the literature search identified 19 relevant articles. (3) Results: The imaging findings associated with BrS were as follows: right ventricular dilation, right ventricular wall motion abnormalities, delayed right ventricular contraction, speckle and feature tracking abnormalities, late gadolinium enhancement, and fat infiltration in the right ventricle. Furthermore, these features emerged more frequently in patients carrying the genetic mutation on the sodium voltage-gated channel α-subunit 5 (SCN5A) gene. (4) Conclusions: Specific imaging features detected by echocardiography and cardiac magnetic resonance are associated with BrS. However, this population appears to be heterogeneous and imaging anomalies emerged to be more frequent in patients carrying genetic mutations of SCN5A. Future studies with an evaluation of BrS patients are needed to identify the specific association linking the Brugada pattern, imaging abnormalities and their possible correlation with prognosis.

Brugada syndrome (BrS) is an inherited disorder with high allelic and genetic heterogeneity clinically characterized by typical coved-type ST segment elevation at the electrocardiogram (ECG), which may occur either spontaneously or after provocative drug testing. BrS is classically described as an arrhythmic condition occurring in a structurally normal heart and is associated with the risk of ventricular fibrillation and sudden cardiac death (SCD). We studied five patients with spontaneous or drug-induced type 1 ECG pattern, variably associated with symptoms and a positive family history through a Next Generation Sequencing panels approach, which includes genes of both channelopathies and cardiomyopathies. We identified variants in MYBPC3 and in MYH7, hypertrophic cardiomyopathy (HCM) genes (MYBPC3: p.Lys1065Glnfs*12 and c.1458-1G > A, MYH7: p.Arg783His, p.Val1213Met, p.Lys744Thr). Our data propose that Brugada type 1 ECG may be an early electrocardiographic marker of a concealed structural heart disease, possibly enlarging the genotypic overlap between Brugada syndrome and cardiomyopathies.

Introduction Heart rhythm disorders in young individuals are often associated with mutations in genes encoding ion channels. A frequently encountered mutation is in the SCN5A gene, which encodes the alpha subunit of the sodium channel. Mutations in this gene can be expressed through a wide spectrum of phenotypic manifestations including rhythm disturbances, structural cardiac changes and/or overlap syndromes (long/short QT syndrome, Brugada syndrome, sinus node syndrome, progressive cardiac conduction disorder, dilated cardiomyopathy and arrhythmogenic cardiomyopathy). Case Report 23–year–old boy with no relevant history. During the induction of anaesthesia for a surgical intervention of nasal polyposis, episodes of asystole with a maximum duration of about 6 seconds were documented. During the hospital stay, a syncopal episode followed, with electrocardiographic monitoring showing a sinus arrest of approximately 16 seconds (Fig. 1). Echocardiography and cardiac resonance ruled out the presence of structural alterations. In view of the documented bradyarrhythmia, the clinical findings and the absence of secondary causes, a dual–chamber pacemaker implant was performed. The patient was subsequently admitted for ectopic atrial tachycardia (Fig. 2) symptomatic for heart palpitations, treated with medical therapy. After careful reconstruction of the family tree (Fig. 3), a positive family history of bradyarrhythmias emerged (grandfather and sister of the paternal grandfather were pacemaker carriers). A blood sample was taken for genetic analysis and a mutation in the SCN5A gene (ex28 c5207 A>G) was detected. The genetic study was extended to first–degree relatives (still in progress). During follow–up visits the patient reported subjective well–being and at pacemaker interrogation evidence of 29% atrial pacing, in the absence of ventricular pacing. Conclusions When faced with a young patient with a conduction disorder, once possible secondary causes have been excluded, genetic analysis should be included in routine examinations because it helps to define an adequate clinical–instrumental follow–up and to identify, at an early stage, the possible progression of the disease and/or the onset of concomitant structural heart disease. Family genetic screening is also essential in order to identify patients at risk of developing the disease.

Introduction Sudden cardiac arrest (SCA) is a high mortality event. Up to 70% of SCAs are caused by an acute coronary syndrome; nevertheless, it is essential to consider also non–ischemic causes while evaluating a post–SCA patient. Clinical Case A 68–year–old male patient with history of hypertension and dyslipidemia, presenting to the emergency room (ER) for syncope. While waiting in the ER, another sincopal episode happened and ventricular fibrillation was detected, therefore he was treated with a DC shock. At the ECG record after SCA, any acute alteration was seen. At the blood tests, an early rise of myocardial injury markers was found. At bedside echocardiography, a slight apical hypokinesia with hypertrabeculation was reported. Hence, coronarography was performed and a multivasal ateromasic coronaropathy was treated with angioplasty and drug–eluting stenting of left main artery, left anterior descending artery and left circumflex artery. In the following days, other ventricular tachyarrhythmias episodes happened and were treated with DC shocks. Due to ventricular arrhythmias relapses and echocardiographic findings, a cardiac MRI was performed, showing subepicardial fatty infiltration in the mid–apical lateral wall with parietal bulging suggesting left ventricle arrhythmogenic cardiomyopathy. So, a cardiac defibrillator was implanted in secondary prevention. Genetic analysis was run and reported a VUS mutation on RYR2 gene, still under evaluation as a possible cause for the clinical events. Conclusions The present clinical case shows that many causes may lead to SCA. Our patient experienced syncopal episodes related to ventricular arrhythmias and an arrhythmic storm which were most likely caused by an ischemic event on the base of an undiagnosed left ventricle arrhythmogenic cardiomyopathy.

A 47 years old man, with no previous medical history, presented to the emergency department for dyspnea increased over the prior weeks. The echocardiographic evaluation revealed a severe pericardial effusion. Moreover, a round-shaped, indeterminate mass was detected into the pericardium, partially enhanced after injection SonoVue R contrast. After the pericardiocentesis, to exclude a severe dilatation of the coronary sinus, the patient underwent to a coronary angiography that showed a diffuse vascularization of the region of the mass. A CT-scan were then performed, and confirmed the presence of a well-defined mass placed near to the left atrial-ventricular junction into the pericardium. The magnetic resonance revealed a limited area of infiltration of the lesion into the myocardium. Finally the patient underwent surgical asportation, and the biopsy showed an high-grade sarcoma. Primary cardiac tumors are rare diseases and in the majority of the cases are of benign nature. Among malignant tumor of the heart sarcoma is the most common. Despite their rarity, malignant heart cancers are associated with high mortality and the prognosis is mostly influenced by the localization of the tumor, its biological aggressiveness, and the difficulty in obtaining surgical radicality. Cardiac sarcomas are most likely to arise from the right atrium followed by right ventricle and less often from the epicardium. In these cases, the asportation of the mass can be challenging, and the risk of myocardial narrowing can affect the area of resection. We reported a rare case of primary cardiac sarcoma mainly localized into the pericardium. Due to its position, the surgical asportation of the tumor was considered complete and our patient was discharge from the hospital without further complication and with a program of chemotherapy. At six months follow-up no recurrence of disease was observed.