HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Personal Folders Download to citation manager Author home page(s): Giorgio Arpesella Giuseppe Marinelli Piero Maria Mikus Franco Dozza Angelo Pierangeli Permission Requests Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Arpesella, G. Articles by Leone, O. Search for Related Content PubMed PubMed Citation Articles by Arpesella, G. Articles by Leone, O. Related Collections Transplantation - heart

J Thorac Cardiovasc Surg 2003;125:1165-1166
© 2003 The American Association for Thoracic Surgery

Brief Communications

Combined heart and liver transplantation for familial amyloidotic polyneuropathy

From the Departments of Cardiovascular Surgery,^a Cardiology,^b Neurology,^c and Pathological Anatomy,^d Policlinico S. Orsola-Malpighi, University of Bologna, Italy.

Received for publication July 19, 2002. Accepted for publication Aug 15, 2002. Address for reprints: Bruno Chiappini, MD, Department of Cardiovascular Surgery, Policlinico S. Orsola-Malpighi, via Massarenti 9-40138 Bologna, Italy (E-mail: bruno_chiappini@hotmail.com).

The first 20% of the full text of this article appears below.

Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant inherited form of amyloidosis associated with a mutant form of a protein called transthyretin. The abnormal protein results from a single point mutation in the gene encoding transthyretin (18q). More than 70 mutations have been described, the most common of which is Met30 (Portuguese variant), which usually presents as a rapidly progressive autonomic neuropathy in the second and third decades of life. This genotype is not associated with cardiomyopathy, and it is cured by means of liver transplantation alone. The second most prevalent is the mutation Tyr 77 (German variant), which is typically associated with rapidly progressive autonomic neuropathy and cardiomyopathy in the fifth or sixth decades of life, leading to death within 5 to 10 years. Combined heart and liver transplantation is indicated when both organs are involved by the same pathologic process because one organ causes damage to the other organ. Although isolated liver transplantation halts the progression of the autonomic neuropathy, cardiomyopathy usually worsens after transplantation because the transthyretin synthesized by the donor liver continues to precipitate on the abnormal transthyretin already deposited in the myocardium. ¹ On the other hand, if cardiac transplantation alone is performed, the patient does not recover because the liver continues to produce the mutated protein. ² Therefore the therapy of choice is transplantation of the injured organ (the heart) and the organ that produces the injury (the liver).

Materials and methods

PATIENT 1. A 60-year old man underwent stress test electrocardiography to assess his fitness for sport, but during the test, atrial fibrillation arose. . . . [Full Text of this Article]

This article has been cited by other articles:

				E. Perugini, P. L. Guidalotti, F. Salvi, R. M.T. Cooke, C. Pettinato, L. Riva, O. Leone, M. Farsad, P. Ciliberti, L. Bacchi-Reggiani, et al. Noninvasive Etiologic Diagnosis of Cardiac Amyloidosis Using 99mTc-3,3-Diphosphono-1,2-Propanodicarboxylic Acid Scintigraphy J. Am. Coll. Cardiol., September 20, 2005; 46(6): 1076 - 1084. [Abstract] [Full Text] [PDF]