Related Experiment Video
Updated: Jul 17, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Physical Examination as a Clue to Transthyretin Cardiac Amyloidosis: A Case Report
Tatsuhiro Hirano1, Mayumi Takeoka2, Michiyo Yamano1
1Cardiology, Matsushita Memorial Hospital, Moriguchi, JPN.
Abstract:
Transthyretin (ATTR) cardiac amyloidosis has recently received increased attention; however, the diagnosis is often delayed. We present a case of ATTR cardiac amyloidosis in which a comprehensive history-taking and focused physical examination played an important role in establishing the diagnosis. A 75-year-old man was referred to the cardiology department for left ventricular hypertrophy on electrocardiography. No fourth sound was audible despite concentric biventricular hypertrophy and diastolic dysfunction on echocardiography. Additional history-taking revealed that he had undergone bilateral carpal tunnel syndrome surgery almost 35 years earlier and had a biceps tendon rupture about 15 years earlier; bunching of the arm on flexion, or Popeye's sign, was noted. Technetium-99m-pyrophosphate showed diffuse uptake not only in both ventricles but also in both atria. The findings were consistent with the absence of the fourth sound. The present case highlights the importance of a focused physical examination as well as history-taking as a clue to ATTR cardiac amyloidosis in patients with unexplained left ventricular hypertrophy.
More Related Videos
Related Concept Videos
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
Cardiovascular System Abnormal Findings I: Inspection and Palpation
Abnormal findings observed during an inspection
Assessment of the Cardiovascular System II: Inspection
Head and Neck
Myocarditis II: Clinical Features and Diagnostic Tests
Dysrhythmias V: Evaluating Dysrhythmias
Acute Coronary Syndrome III: Diagnostic Studies

