Cardiac Amyloidosis Clinical Presentation

Updated: May 09, 2019
  • Author: Gyanendra K Sharma, MD, FACC, FASE; Chief Editor: Terrence X O'Brien, MD, MS, FACC  more...
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Systemic amyloidosis (AL) is a complex multisystem disorder, and symptoms depend on the organ involvement. [29] Approximately half of the patients with cardiac involvement present with right-sided heart failure. The patients may present with the following signs and symptoms [20] :

  • Fatigue and weakness are the most common symptoms

  • Abnormal voice quality

  • Leg edema

  • Dyspnea

  • Dizziness

  • Presyncope/syncope [30]

  • Postural hypotension

  • Easy bruising

  • Angina [13, 31]

  • Pulmonary edema (rare)

  • Sudden cardiac death

  • Cardiac tamponade (rare) [32]

  • Heart block [33]

  • Ischemic stroke (in 30% cases, cardioembolic in the remaining 70%) [34]

  • Painful polyneuropathy (10-20% cases)

  • Carpal tunnel syndrome (20%) [35]

  • Pulmonary amyloid infiltration, pulmonary hypertension, and cor pulmonale


Physical Examination

Physical examination findings in primary amyloidosis are consistent with features of right-sided heart failure and includes elevated jugular venous pressure, right-sided third heart sound, and lower extremity edema. A prominent fourth heart sound is present in patients without atrial fibrillation.

Periorbital purpura and macroglossia are specific for the presence of disease but have poor sensitivity (10-20%). Abnormal phonation resulting in a change in speech quality is seen in most cases and may be an early feature of systemic amyloidosis. [36] Visceral involvement may result in the enlargement of liver and kidneys.

Hypotension may be from low cardiac output or autonomic neuropathy. Murmurs of tricuspid or mitral regurgitation may be present in patients with valvular infiltration of amyloid.