Introduction Marfan syndrome (MS) is a systemic disease of the connective tissue with an autosomal dominant transmission, usually associated with a mutation in the fibrillin 1 gene (FBN1). The estimated prevalence is 6.5/100,000. According to the revised Ghent criteria, mutation in the FBN1 gene, lens ectopy, and aortic root dilation are the key factors for the diagnosis of MS., Life expectancy is essentially determined by cardiovascular complications, particularly aortopathy. […]

Abstract A six-year-old girl with restrictive cardiomyopathy and hypertrabeculation, due to the early onset of her disease, whole exome sequencing was conducted, revealing the presence of a novel heterozygous missense variant in the FLNC gene. The same gene variant was also identified in her father, who, at an adult age, displayed normal imaging results and was symptom-free. This variant has not been reported in population databases or current medical literature and is classified as likely pathogenic.

Introduction Constrictive pericarditis is defined as an inflammatory process of the fibrous and serous layers of the pericardium that leads to pericardial thickening and compression of the cardiac chambers, ultimately resulting in a significant reduction in cardiac function. Tuberculous pericarditis remains the leading cause of constrictive pericarditis worldwide, especially in the remote rural areas of eastern countries where the level of health care and services is relatively backward. Other causes include postcardiotomy, connective tissue diseases, postmediastinal irradiation, uremia, and idiopathic. […]

Introduction Genetic cardiomyopathy related to desmoplakin (DSP) mutation can start its clinical manifestation with chest pain symptoms, along with transient troponin elevation configuring first manifest as acute myocarditis, sometimes in a relapsing pattern. It is clear that the revised Task Force criteria for genetic cardiomyopathy will miss many cases, particularly those with left-sided dominance. This case reports highlights to understand that genetic cardiomyopathy, particularly with DSP mutation, can present with acute myocarditis and to understand that cardiovascular magnetic resonance (CMR) […]

Abstract Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis are rare types of histopathological substrates within the spectrum of pulmonary arterial hypertension (PAH) with a very poor prognosis. They are characterized by a widespread fibroproliferative process of the small caliber veins and/or capillaries with sparing of the larger veins, resulting in a pre-capillary pulmonary hypertension phenotype. Clinical presentation is unspecific and similar to other PAH etiologies. Definitive diagnosis is obtained through histological analysis, although lung biopsy is not advised due […]

Abstract Cardiac tumors are rare entities, among which atrial myxoma (AM) stands as the most frequent, accounting for approximately half of all reported cases. The incidence of AM is estimated to range from 0.001% to 0.3% within the general population, yet only about 0.06% of these cases present with coronary embolic events. We report on a 33-year-old male smoker who experienced acute, severe precordial pain radiating to the left upper limb, lasting for one hour. The electrocardiographic evaluation demonstrated ST-segment […]

Abstract This case report describes the exercise program on a hospitalized 54-year-old male patient with cardiogenic shock waiting for a heart transplant assisted by an intra-aortic balloon pump, a temporary mechanical circulatory support device. The temporary mechanical circulatory support device, an intra-aortic balloon pump, was placed in the left subclavian artery, enabling the exercise protocol. Measurements and values from Swan-Ganz catheter, blood sample, brain natriuretic peptide (NT-proBNP), and high-sensitivity C-reactive protein (hs-CRP), as well as the six-minute walk test (6MWT) […]

Introduction 5-Fluorouracil (5-FU) is a pyrimidine antimetabolite used to treat solid tumors. 5-FU can cause several cardiovascular side effects with a frequency of 1.2-18%., Among these side effects, angina and myocardial infarction are common. Other rare side effects have also been reported, including myocarditis, pericarditis, arrhythmias including atrial fibrillation, QT prolongation, heart failure, and death. These conditions have been directly associated with vasospasm due to endothelial dysfunction., This case report details the diagnosis and management of 5-FU cardiotoxicity upon the […]

Case Report We report the case of an 87-year-old male patient who presented with severe torrential tricuspid regurgitation with important hemodynamic repercussions and conditions of right heart failure, episodes of pulmonary thromboembolism, and deep vein thrombosis in the lower limbs, in follow-up at the hospital’s cardiology service since 1996. The patient had severe comorbidities, including permanent atrial fibrillation in use of prophylactic enoxaparin and impossibility of safe oral anticoagulation due to chronic renal failure. Furthermore, he concomitantly presented stage 3 […]

Introduction Fatal ventricular arrhythmias have an increased incidence in the case of structural heart diseases such as ischemic cardiomyopathy. It is known that ventricular premature contractions (PVCs) originating from Purkinje fibers can induce polymorphic ventricular tachycardia (PMVT) and, subsequently, ventricular fibrillation (VF) in patients with ischemic cardiomyopathy., Ventricular arrhythmias associated with Purkinje usually do not respond to conventional antiarrhythmic drugs. Catheter ablation is a favorable and life-saving treatment strategy for VF triggered by Purkinje fibers. […]