p.Asp58Val Hereditary Transthyretin Amyloidosis: A Case Report and Literature Review

TL;DR

This case report describes a rare genetic mutation causing hereditary amyloidosis in a 54-year-old woman, highlighting its symptoms and the need for better recognition.

Contribution

The report provides a detailed clinical account of the rare p.Asp58Val mutation in transthyretin amyloidosis.

Findings

The p.Asp58Val mutation was identified in a patient with progressive neuropathy and cardiomyopathy.

Recurrent syncope was a prominent symptom preceding diagnosis.

Multidisciplinary management improved the patient's functioning.

Abstract

Hereditary transthyretin amyloidosis (ATTRv) is a clinically important yet under-recognised entity. It develops when inherited genetic mutations synthesise dysfunctional transthyretin protein, which accrues and disrupts organs, typically causing cardiac failure or polyneuropathy. Whilst numerous genotypes have been implicated, this report aims to provide a detailed account of the rare and pathognomonic aspartate to valine amino acid substitution, p.Asp58Val, affecting a 54-year-old Australian female, along with associated clinical manifestations. Genotypic-phenotypic relationships are also examined within index and prior cases. Of note, recurrent syncope formed a predominant symptom affecting our patient, preceding eventual diagnosis, followed by multidisciplinary management to optimise her level of functioning. In summary, progressive neuropathy followed by cardiomyopathy may represent key clinical features associated with p.Asp58Val hereditary transthyretin amyloidosis. Physician vigilance for these symptoms, especially amongst patients with familial cardiomyopathy, may improve detection of this rare disease.

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