Mutant Thr95Ile Transthyretin-Related Cardiac Amyloidosis With Polyneuropathy
نویسندگان
چکیده
منابع مشابه
Transthyretin-related familial amyloidotic polyneuropathy.
Transthyretin-related familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis. Until 20 years ago, FAP was thought to be restricted to endemic occurrence in certain areas. However, owing to progress in biochemical and molecular genetic analyses, FAP is now believed to occur worldwide. As of today, reports of about 100 different points of single or double mutations, or a dele...
متن کاملCardiac involvement in familial amyloidosis with polyneuropathy.
Cardiac involvement in familial amyloidosis with polyneuropathy. Peter Eriksson, Department of Internal Medicine, University of Umeå, S-901 85 Umeå, Sweden Familial amyloidosis with polyneuropathy (FAP) is a neuropathic form of heredofamilial systemic amyloidosis. Clusters of patients have been re ported predominantly from Portugal, Japan and Sweden. The present study examines the involvement ...
متن کاملEarly identification of transthyretin-related hereditary cardiac amyloidosis.
Amyloidosis is characterized by the extracellular deposition of highly-organized fibrillar aggregates showing a cross-beta super-secondary structure (1). Several proteins are amyloidogenic in humans, resulting in different clinical presentations, either systemic or localized. Transthyretin-related hereditary amyloidosis (ATTR) is a late-onset, dominantly inherited systemic amyloidosis. Heterozy...
متن کاملTransthyretin Cardiac Amyloidosis in Black Americans.
Transthyretin-related cardiac amyloidosis is a progressive infiltrative cardiomyopathy that mimics hypertensive and hypertrophic heart disease and often goes undiagnosed. In the United States, the hereditary form disproportionately afflicts black Americans, who when compared with whites with wild-type transthyretin amyloidosis, a phenotypically similar condition, present with more advanced dise...
متن کامل[Familial approach in hereditary transthyretin cardiac amyloidosis].
Cardiac amyloidosis is a disease of complex diagnosis and treatment. Some subtypes of cardiac amyloidosis are inherited. Among these, the most common variant is caused by mutations in the transthyretin gene. Correct identification of amyloidosis produced by a genetic defect is of great importance because it modifies the diagnostic and therapeutic approach in patients and their families. We desc...
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ژورنال
عنوان ژورنال: Circulation Journal
سال: 2019
ISSN: 1346-9843,1347-4820
DOI: 10.1253/circj.cj-19-0281