Abstract
An 83 year old white man with atrial fibrillation was admitted to hospital after a cerebral infarct. Echocardiography was characteristic of cardiac amyloid deposition and subsequent tests confirmed amyloidosis of transthyretin (TTR) type, in association with the Ile122 mutation of the TTR gene; this has only been reported previously in African Americans in whom it occurs with an allele frequency of 2%. Haplotype analysis did not suggest a different founder than for the African Ile122 mutation. Cardiac amyloidosis should be considered among elderly patients presenting with cardiac failure and/or arrhythmia, particularly if they are resistant to conventional treatment; if confirmed, it should be followed by precise characterisation of amyloid fibril type. The prevalence of autosomal dominant cardiac TTR amyloidosis in elderly white people is unknown but early diagnosis and supportive treatment may prevent complications among affected family members. Keywords: amyloid; amyloidosis; transthyretin; hereditary amyloidosis; stroke
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Figure 1 .
Nucleotide sequence of part of exon 4 of the transthyretin gene from the patient (right) compared with a healthy subject (left). The patient was heterozygous for a single base change, a transition from C to T (arrowed), which alters codon 122 to code for isoleucine instead of valine (antisense strand shown).
Figure 2 .
Transthyretin (TTR) genotyping of the present kindred. The arrow indicates the patient. Black symbols, individuals heterozygous for the Ile122 mutation; grey symbols, individuals with wild-type sequence; open symbols, not tested. The two children of the patient who are heterozygous for the TTR Ile122 mutation are currently asymptomatic aged 42 and 40.
Selected References
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