Year: 2025
Type: article
Study design: Case Report
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.
Source: Cureus
DOI: 10.7759/cureus.99872
Institutions: Epworth Hospital, Eastern Health
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7116977089