Amyloid deposits inside myocardial fibers in transthyretin-Met30 familial amyloidotic polyneuropathy. A histological and biochemical study

M. G. Fiori, F. Salvi, R. Plasmati, F. Tessari, R. Bianchi, C. A. Tassinari

Research output: Contribution to journalArticlepeer-review

Abstract

A case of severe cardiac involvement is reported in a patient affected with familial amyloidotic polyneuropathy due to the Portuguese type I variant (Val → Met30) of the transthyretin (prealbumin) molecule. Echocardiographic and hemodynamic studies suggested the presence of a progressive infiltrative cardiomyopathy that was later confirmed by endomyocardial biopsy. Amyloid deposits were found in both intra- and extra-myofiber location and thought to be related to primary involvement of the heart. Norepinephrine content of myocardial bioptic specimens was about threefold lower than normal, indicating that autonomic denervation may contribute to the maintenance and progression of cardiomyopathy. A sample obtained from the sural nerve showed a loss of myelinated fibers along with accumulation of amyloid masses in the endoneurial space. This histopathologic pattern correlated with a sharp decrease in the activity of the enzyme subserving electrochemical conduction through the axonal membrane, Na+, K+-ATPase.

Original languageEnglish
Pages (from-to)145-153
Number of pages9
JournalCardiology
Volume85
Issue number3-4
Publication statusPublished - 1994

Keywords

  • Amyloidosis
  • Cardiomyopathy
  • Endomyocardial biopsy
  • Norepinephrine Na,K-ATPase
  • Peripheral nerve
  • Transthyretin

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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