Related Experiment Video
Updated: Jul 5, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
A Straining Heart: Transthyretin Amyloidosis as a Cause of Heart Failure
Joana Tender-Vieira1, Claudemira Pinto1, Paula Matias1
1Internal Medicine, Centro Hospitalar Universitário de São João, Porto, PRT.
Abstract:
Cardiac amyloidosis is a disease caused by the deposition of amyloid fibrils in the extracellular space of the heart, most often by immunoglobulin light chains or by transthyretin. It is often underdiagnosed because the signs and symptoms are nonspecific or due to the false perception that the diagnosis always requires an endomyocardial biopsy. Transthyretin amyloidosis is being increasingly recognized as a cause of heart failure, particularly in patients with heart failure with preserved ejection fraction (HFpEF). We present the clinical case of an 86-year-old man whose diagnosis was based on signs and symptoms compatible with cardiac amyloidosis and in which imaging performed a preponderant role. This case reminds clinicians to consider the diagnosis in older patients with HFpEF, left ventricular hypertrophy and rhythm disturbances. It highlights the importance of evaluating global longitudinal strain (GLS) in a standard echocardiographic evaluation.
Related Concept Videos
Pathophysiology of Heart Failure
Heart Failure Drugs: Inhibitors of Renin-Angiotensin System
Imbalances in Cardiac Output
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send...
Heart Failure Drugs: Diuretics
Heart Failure Drugs: Inotropic Agents
Heart Failure Drugs: β-Blockers

