Cardiac amyloidosis pathophysiology


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Pathophysiology

 * Amyloidosis is characterized by the deposition and extracellular accumulation of fibrillary proteins, leading to the loss of normal tissue architecture.


 * Most frequent types are:
 * Acquired monoclonal immunoglobulin light-chain amyloidosis
 * Hereditary transthyretin (TTR)-related form
 * Non-mutant TTR-related amyloidosis


 * All three forms frequently involve the myocardium.

Acquired monoclonal immunoglobulin light-chain amyloidosis (AL)

 * the immunoglobulin lights chains of fibrillary deposits are produced by the clonal plasma cells in the bone marrow.

Hereditary transthyretin (TTR)-related form (ATTRm)

 * caused by greater than 100 mutations of TTR
 * the protein is synthesized by the liver

Non-mutant TTR-related amyloidosis (ATTRwt)

 * also know as systemic senile amyloidosis
 * elderly male prepondrance
 * presence of isolated ventricular amyloid observed in elderly without family history of amyloidosis
 * this deposition has shown to be associated with increased mortality

Familial amyloidotic cardiomyopathy

 * defined as presence of TTR mutation that primarily affects the myocardium and without significant neuropathy.

Histopathological Findings
[http://www.peir.net Images shown below are courtesy of Professor Peter Anderson and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology]