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J Am Coll Cardiol. 2015 Dec 1;66(21):2451-2466. doi: 10.1016/j.jacc.2015.09.075.

Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis.

Author information

1
Division of Hematology, Mayo Clinic, Rochester, Minnesota. Electronic address: gertz.morie@mayo.edu.
2
Indiana University School of Medicine, Indianapolis, Indiana.
3
Division of Peripheral Nerve, Mayo Clinic, Rochester, Minnesota.
4
Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota.
5
Hospital de Santo Antonio, Porto, Portugal.
6
Federal University of Rio de Janeiro of Brazil, University Hospital, Rio de Janeiro, Brazil.
7
Amyloidosis Center, Boston University School of Medicine, Boston, Massachusetts.
8
University Hospital, Henri Mondor, Créteil, France.
9
Universitätsklinikum Münster, Münster, Germany.
10
Department of Molecular Medicine, University of Pavia, Pavia, Lombardy, Italy.

Abstract

Transthyretin amyloidosis is a fatal disorder that is characterized primarily by progressive neuropathy and cardiomyopathy. It occurs in both a mutant form (with autosomal dominant inheritance) and a wild-type form (with predominant cardiac involvement). This article guides clinicians as to when the disease should be suspected, describes the appropriate diagnostic evaluation for those with known or suspected amyloidosis, and reviews the interventions currently available for affected patients.

KEYWORDS:

familial amyloid cardiomyopathy; familial amyloid polyneuropathy; genetics; liver transplantation

PMID:
26610878
DOI:
10.1016/j.jacc.2015.09.075
[Indexed for MEDLINE]
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