Two siblings diagnosed to have transthyretin-related familial amyloid cardiomyopathy around the same time at different hospitals.
نویسندگان
چکیده
Mutation in the transthyretin (TTR) gene may clinically manifest as cardiomyopathy. Here, we describe 69-year-old and 72-year-old brothers who were diagnosed as having TTR-related familial amyloid cardiomyopathy by endomyocardial biopsy at different hospitals at around the same time. They were not from an endemic area of familial amyloid polyneuropathy. Genetic analysis showed a base change in the TTR gene leading to a p.Val30Met mutation in both patients. Screening of family members, as well as detailed family history taking, is important for the diagnosis of cardiomyopathy of unknown etiology.
منابع مشابه
Amyloid-related Disorders Transthyretin-associated Familial Amyloid Polyneuropathy— Current and Emerging Therapies
Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP), the most common form of systemic hereditary amyloidosis worldwide, is a late-adult-onset autosomal dominant disease caused by mutations in the TTR gene, with peaks in prevalence in endemic areas. The clinical picture is dominated by a progressive length-dependent polyneuropathy with onset in the feet with loss of temperature an...
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Background Familial amyloid polyneuropathy (FAP) is an inherited disorder with autosomal dominant transmission and multiple phenotypes, characterized by systemic accumulation of amyloid fibrils. The most common type of FAP is related to a mutant transthyretin (TTR). TTR is mainly synthesized in the liver, but few amount of TTR is produced in the eye, namely in retinal pigment epithelium, which ...
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Introduction: Amyloid diseases have been known to be hereditary, including transthyretin (TTR) amyloidosis where subunit protein mutations may occur in genes for TTR leading to the deposition of fibrils (low molecular weight subunits (5 to 25 kD) of proteins) in extracellular tissues. By reducing the formation of TTR amyloid, diflunisal, a nonsteroidal anti-inflammatory drug (NSAID), has shown ...
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BACKGROUND Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide. A great phenotypic variability among...
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عنوان ژورنال:
- Internal medicine
دوره 51 5 شماره
صفحات -
تاریخ انتشار 2012