Abstract Cardiac Amyloidosis is a restrictive cardiomyopathy caused by the accumulation of amyloid protein in the heart. The advances in non-invasive diagnosis have been increasing its identification among patients with Heart Failure (HF), being previously considered to be a rare condition. Currently, it represents around 13% of the cases of Heart Failure with preserved Ejection Fraction (HFpEF). We report the case of a 72-year-old male patient who presented to the clinic reporting dyspnea and fatigue in low-effort activities. Laboratory exams […]

The prevalence of homozygotes for the Val142Ile genetic variant in the transthyretin (TTR) gene is extremely low in the general population (0.72%). This prevalence is slightly higher in endomyocardial biopsy studies (6% to 10%) and in cohorts involving reference centers for TTR cardiac amyloidosis (4% to 14%)., Homozygotes represent a distinct subpopulation within the spectrum of cardiac amyloidosis, with clinical characteristics that appear to differ substantially from those of heterozygotes. This genetic variation has been associated with an onset of […]

Introduction Systemic amyloidosis is a relatively rare multisystem disease caused by the deposition of misfolded protein in various tissues and organs. Cardiac amyloidosis (CA) is recognized as an underlying cause of left ventricular wall thickening, heart failure, and arrhythmia with variable clinical presentation. The clinical diagnosis of cardiac involvement in amyloidosis is challenging, requiring a patient-centered diagnostic work-up that ensures an appropriate diagnosis., Although amyloidosis has been associated with multiple malignant disorders, its association with leukemia is rather uncommon.– Also, […]

Introduction Amyloidosis is a disease characterized by extracellular deposition of insoluble proteins resulting in organ dysfunction. There are more than 30 known proteins capable of aggregating into amyloid fibrils; among these, amyloidosis due to light chain (AL) immunoglobulin and transthyretin amyloidosis (ATTR) represent 98% of cardiac amyloidosis. Transthyretin (TTR) is a tetrameric protein whose function is to transport thyroxine and retinol-binding protein. It is primarily produced in the liver, with smaller quantities found in the choroid plexus and retinal pigment […]

Abstract Cardiac amyloidosis (CA) is a multisystemic, infiltrative disease characterized by the deposition of insoluble proteins, known as amyloid fibrils, in the interstitial space of different tissues, such as the heart, nervous system, gastrointestinal tract, and eyes. In the heart, it is characterized by a progressive myocardial thickening, evolving into a restrictive pattern. CA is being diagnosed with increasing frequency, probably due to the greater dissemination of related information and advances in diagnostic methods and therapies that modify its course. […]

Abstract Echocardiography is essential for the diagnosis and treatment of cardiovascular disease. Assessing left ventricle diastolic function is a major challenge, and several well-known ultrasound techniques, such as pulsed Doppler for mitral flow, tissue Doppler, and myocardial strain, are used to non-invasively estimate left atrial filling pressure. Although widely available, this approach has several limitations and does not truly represent the intrinsic properties of the cardiac muscle. However, cardiac elastography can be studied non-invasively by estimating myocardial stiffness through shear […]

Abstract Amyloidosis is a systemic infiltrative disease characterized by the extracellular deposition of amyloid fibrils. Heart involvement is common and associated with a poor prognosis. The most predominant types of cardiac amyloidosis (CA) are amyloid immunoglobulin light chain (AL) and amyloid transthyretin (ATTR). Diagnosis of CA and differentiation between the types are important for prognosis, therapy, and genetic counseling. ATTR-CA is an under-diagnosed cause of heart failure. However, great accomplishments in non-invasive imaging methods, as well as the possibility of […]

Abstract Cardiac magnetic resonance imaging (CMR) plays an important role in the diagnosis and prognosis of various heart diseases. The incidence of cardiac amyloidosis and aortic stenosis has been increasing in recent years, especially with the aging population, and their possible coexistence has created frequent diagnostic challenges in clinical practice. CMR assumes an important value in this context due to its unique capacity for multiparametric assessment evaluations that include anatomical, functional, and histopathological aspects. The present review aimed to increase […]

Abstract Amyloidosis is a rare heterogeneous group of disorders that occur with the extracellular deposition of fibrillar protein aggregates in the tissues and organs. Here we report the case of a 76-year-old with a 2-month history of progressive dyspnea on minimal effort. In the investigation, a global cardiac increase was observed, and echocardiography showed infiltrative restrictive heart disease and a pericardial effusion. Cardiac magnetic resonance imaging findings were highly suggestive of cardiac amyloidosis. Thus, as reported here, cardiac involvement primarily […]

Abstract Introduction Cardiac involvement in patients with systemic amyloidosis indicates a worse prognosis. Moreover, the diagnosis is delayed, since the signs and symptoms of this disease are nonspecific. Global longitudinal strain has been shown to be an important predictor of cardiac events. We report four cases of patients with cardiac amyloidosis submitted to ECHO Strain and magnetic resonance for comparison and diagnostic confirmation. Case reports The medical records of four patients with cardiac amyloidosis admitted in 2017 at a tertiary […]