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Clinical manifestations and diagnosis of amyloid cardiomyopathy

William J McKenna, MD
Section Editor
Bernard J Gersh, MB, ChB, DPhil, FRCP, MACC
Deputy Editor
Susan B Yeon, MD, JD, FACC


Amyloidosis refers to the extracellular deposition of fibrils that are composed of low molecular weight subunits (5 to 25 kD) of a variety of serum proteins. These fibrils adopt a beta-pleated sheet configuration that leads to characteristic histologic changes. Amyloid deposits can occur in a variety of organs, with involvement of the heart, kidney, liver, and autonomic nervous system most often being responsible for morbidity and mortality. (See "Overview of amyloidosis".)

The frequency of cardiac involvement varies among types of amyloidosis. The prognosis of amyloid cardiomyopathy also varies among types of amyloidosis, with high mortality rates, particularly in light-chain amyloidosis.

This topic will review the clinical manifestations and diagnosis of amyloid cardiomyopathy. The prognosis and treatment of amyloid cardiomyopathy is discussed separately. (See "Treatment of amyloid cardiomyopathy".)


Although over 25 different amyloidogenic proteins have been described, many are rare and some do not affect the heart. The three most common types of amyloidosis, defined by their precursor proteins, are light-chain (AL), familial or senile (ATTR), and secondary (AA) amyloidosis. The frequency and severity of cardiac involvement varies among various types of amyloidosis.

In AL (primary) amyloidosis, a plasma cell dyscrasia, the amyloid protein consists of a monoclonal light chain. Clinical evidence of cardiac involvement occurs in up to 50 percent of patients with AL amyloidosis [1] compared with less than 5 percent with AA amyloidosis [2]. (See "Pathogenesis of immunoglobulin light chain (AL) amyloidosis and light and heavy chain deposition diseases".)

In AL amyloidosis there is evidence that the biochemical characteristics of the light chain may be important as illustrated by the following observations:

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Literature review current through: Nov 2017. | This topic last updated: Aug 23, 2017.
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