Virtual Conference
Heart 2022 Conference

Mariano Napoli Llobera

Health Sciences North Hospital, Canada

Title: Amyloidosis: Rare or Underdiagnosed Disease?

Abstract

Amyloidosis is the general term for a clinical condition caused when one of more than 30 different precursor proteins with unstable tertiary structure misfolds and aggregates as insoluble amyloid fibrils which deposit in the extracellular space of organs and soft tissue. Specifically, cardiac amyloidosis (CA) is a type of restrictive cardiomyopathy, in which the infiltration of amyloid fibrils into myocardial tissue results in progressive ventricular stiffness, wall thickening, and diastolic dysfunction due to restrictive physiology, which typically manifests as heart failure with preserved ejection fraction (HFpEF). When the disease is advanced, systolic dysfunction might also be seen. Among the many types of amyloidosis, nearly all cases of clinical CA (> 95%) are caused by transthyretin amyloidosis (ATTR) or light chain amyloidosis (AL). AC should be suspected when the patient presents symptoms and signs of HFpEF with unexplained increased left ventricular wall thickness (> 12 mm) and 1 or more clinical manifestations. Clinical signs of CA with echocardiography, cardiac magnetic resonance, elevated biomarkers, and grade 2-3 uptake with 99mTc-PYP (pyrophosphate) in scintigraphy, with the exclusion of a monoclonal protein that could cause AL by the light chain test in serum and urine, confer a positive predictive value of 100% for the diagnosis of ATTR. In patients with heart failure due to amyloidosis, the maintenance of euvolemia will be essential, through fluid restriction and diuretics. The first and only medication indicated to reduce cardiovascular mortality and cardiovascular hospitalization in adults with ATTR is tafamidis, in a daily dose of 80 mg, which stabilizes the TTR tetramer and reduces the formation of TTR. CA is an entity that is being diagnosed more frequently. The use of non-invasive techniques, such as scintigraphy with 99mTc-PYP, cardiac magnetic resonance, and light chains in blood and urine allow early identification and treatment of this underdiagnosed disease.

Biography

University cardiologist graduated in Buenos Aires, Argentina. Member of the Emerging Leaders group of the Inter-American Society of Cardiology. Member of the Heart Failure Council of the Argentine Society of Cardiology. Research fellowship of Heart Failure Disease Management Program, Division of Cardiology, Health Sciences North Hospital, Sudbury, Ontario - Canada.