The Valsalva maneuver (VM) was first described in 1704 as a forceful expiration against the closed nose and glottis., At that time, no observations of the circulatory effects were mentioned. In 1853, Weber et al. described the hemodynamic and circulatory effects related to the VM, and it has been widely used in cardiology since then. The initial applications of the VM focused on the investigation of cardiac autonomic reflex control. Currently, the VM is recommended in echocardiography, in specific scenarios, […]

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 Background: Sudden cardiac death (SCD) resulting from ventricular arrhythmia is the main complication of hypertrophic cardiomyopathy (HCM). Microvolt T-wave alternans (MTWA) is associated with the occurrence of ventricular arrhythmias in several heart diseases, but its role in HCM remains uncertain. Objective: To evaluate the association of MTWA with the occurrence of SCD or potentially fatal ventricular arrhythmias in HCM patients in a long-term follow-up. Methods: Patients diagnosed with HCM and NYHA functional class I-II were consecutively selected. At the […]

A 33-year-old Brazilian man was admitted to the emergency department with sudden onset of global aphasia and right hemiparesis. An urgent CT angiography of the cerebral arteries confirmed the stroke diagnosis, showing an occlusion of the left internal carotid artery. The patient underwent systemic thrombolysis and mechanical thrombectomy with subsequent neurological improvement. Considering the stroke diagnosis in a young adult most likely of cardioembolic origin, he undertook a thorough diagnostic workup. Of importance, he had a family history of cardiomyopathy, […]

Abstract Background PRKAG2 syndrome is a rare autosomal dominant disease, a phenocopy of hypertrophic cardiomyopathy characterized by intracellular glycogen accumulation. Clinical manifestations include ventricular preexcitation, cardiac conduction disorder, ventricular hypertrophy, and atrial arrhythmias. Objective To compare the clinical and electrophysiological characteristics observed in patients with atrial flutter, with and without PRKAG2 syndrome. Methods An observational study comparing patients with atrial flutter: group A consisted of five patients with PRKAG2 syndrome from a family, and group B consisted of 25 patients […]

Abstract Background Hypertrophic cardiomyopathy (HCM) and left ventricular hypertrophy (LVH) secondary to systemic hypertension (HTN) may be associated with left atrial (LA) functional abnormalities. Objectives We aimed to characterize LA mechanics in HCM and HTN and determine any correlation with the extent of left ventricular (LV) fibrosis measured by cardiac magnetic resonance (CMR) in HCM patients. Methods Two-dimensional speckle tracking-derived longitudinal LA function was acquired from apical views in 60 HCM patients, 60 HTN patients, and 34 age-matched controls. HCM […]

Past medical history A 58-year-old woman with familial amyloid polyneuropathy caused by the Val30Met (p.Val50Met) mutation in the transthyretin (TTR) gene started showing neuropathic symptoms by the age of 37 and a salivary gland biopsy confirmed TTR amyloid deposition. She was submitted to liver transplantation 7 years after symptom onset and was under immunosuppressive drugs, with stable neurological changes since then. She also had chronic kidney failure (stage 3b) and a pacemaker implanted due to sick sinus syndrome. […]