Introduction Heart failure (HF) affects approximately 2% of the world population; heart failure with preserved ejection fraction (HFpEF) is responsible for approximately 50% of cases, and it has shown a progressive increase in prevalence with the aging of the population. HFpEF is associated with high morbidity and mortality, and it is responsible for frequent hospitalizations, especially in the most elderly population. It has a complex pathophysiology and a diversified group of risk factors and etiologies. To date, few therapies have […]

Cardiac amyloidosis has long been an entity neglected by most doctors, being considered a rare disease with limited treatment options. Recent diagnostic and therapeutic advances have brought a renewed vision in the evaluation strategies of the different forms of amyloidosis that potentially affect the heart.1 , 2 In this article we carry out a critical reflection on the importance of early diagnostic suspicion and use of contemporary algorithms to instrumentalize the cardiologist for clinical practice. […]

Transthyretin (TTR) is a tetrameric protein synthesized essentially by the liver. TTR molecules may misfold and store as amyloid fibrils in the heart and other organs, leading to TTR-related amyloidosis (ATTR) . ATTR can follow the deposition of either variant ATTR (ATTRv), which was previously known as mutant ATTR, or wild-type ATTR (ATTRwt). ATTR is an underdiagnosed disease, as well as a crucial determinant of morbidity and mortality. Cardiac involvement is common in ATTR, leading to transthyretin cardiomyopathy (ATTR-CA). ATTR-CA […]

Abstract Systemic amyloidosis is a group of diseases caused by the deposition of an amyloid protein that forms fibrils and deposits in tissues. With respect to age and phenotype, patients with the Val122Ile transthyretin (TTR) mutation are similar to those with wild-type cardiac amyloidosis, causing a late-onset restrictive cardiomyopathy with minimal neuropathy, whose median age of onset is 69 years. Homozygous mutation is rare. We report the case of a male patient who had recent-onset heart failure and phenotype of […]

Abstract A 90-year-old male patient presented with complaints and physical examination compatible with decompensated heart failure. Electrocardiogram showed atrial fibrillation and low voltage in limb leads, and echocardiogram identified biatrial dilatation, in addition to mild increases in ventricular wall thickness and diameter. Magnetic resonance imaging confirmed suspicion of cardiac amyloidosis. With negative serum and urinary protein electrophoresis and positive pyrophosphate cardiac scintigraphy, diagnosis of transthyretin cardiac amyloidosis was confirmed. Transthyretin gene mutations were not identified on sequencing, characterizing wild-type transthyretin […]

The Brazilian Paramyloidosis Association (ABPAR)1 was founded on November 17, 1989 at the in the Convention Room of Hotel Rio Copa, in the city of Rio de Janeiro. In December of that year, it became a legal entity following registration at the notary’s office and publication in the Brazilian Official Gazette. […]

Introduction Cardiac amyloidosis is characterized by the presence of deposits of amyloid material between myocardial fibers, leading to impaired function. In 95% of cases, it can be secondary to excessive production of abnormal light chain immunoglobulins or changes in transthyretin (TTR), either due to mutation or wild type. TTR is a protein produced mainly by the liver, and it is responsible for transporting retinol and thyroid hormone. Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant genetic disease due to mutation […]

The latest edition of Arquivos Brasileiros de Cardiologia has brought us the publication of the Position Statement on Diagnosis and Treatment of Cardiac Amyloidosis by the DEIC/GEMIC/SBC. This document was the result of the collaborative efforts of many experts in the area, exponents of cardiology in Brazil, but it also included other specialists, such as neurologists, hematologists and nuclear physicians. […]

Abstract Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy that occurs secondary to deposition of misfolded protein in the myocardium. The two most common subtypes are amyloid light chain amyloidosis and amyloid transthyretin amyloidosis. CA frequently results in congestive cardiac failure and arrhythmias, due to a disruption in cardiac substrate with subsequent electromechanical remodeling. Disease progression is usually demonstrated by development of progressive pump failure, which may be seen with a high arrhythmic burden, usually portending a poor prognosis. Arrhythmias are […]

Abstract Background Amyloidosis is a systemic disease that involves multiple organs, characterized by the deposition of amyloid fibrils. Knowledge regarding the epidemiological, clinical, and genetic profile of the population affected by amyloidosis throughout the country is of fundamental importance for establishing diagnostic and therapeutic strategies. Objective To evaluate the epidemiological, clinical, laboratory, imaging, and treatment variables of patients with TTR cardiac amyloidosis. Methods A multicenter, retrospective, prospective, and observational study based on collection of data on the natural history of […]